**Generated Narrative: ConceptMap snomed-orphanet-mapping**

Mapping from SNOMED_Rare Diseases to Orphanet_Rare Diseases

**Group 1 **Mapping from SNOMED CT (Auszug) to `http://www.orpha.net/ontology/orphanet.owl`

Source Code | Relationship | Target Code |

771474005 (Gastric adenocarcinoma and proximal polyposis of stomach) | is equivalent to | 314022 |

1186726000 (Primary hyperplasia of mandibular condyle) | is equivalent to | 477781 |

252246005 (Pseudoxanthoma elasticum) | is equivalent to | 758 |

230411000 (Benign non-familial neonatal convulsions) | is equivalent to | 64545 |

268163008 (Congenital ptosis of upper eyelid) | is equivalent to | 91411 |

116371000119107 (Ganglioneuroma) | is equivalent to | 251992 |

44250009 (Infection by Loa loa) | is equivalent to | 2404 |

766881008 (Carney complex, trismus, pseudocamptodactyly syndrome) | is equivalent to | 319340 |

1264000005 (Scar of eye due to and following filtration operation for glaucoma) | is equivalent to | 90080 |

773405004 (Intellectual disability with strabismus syndrome) | is equivalent to | 363528 |

449799008 (Subependymal giant cell astrocytoma) | is equivalent to | 251618 |

773330000 (Autosomal recessive intermediate Charcot-Marie-Tooth disease type B) | is equivalent to | 254334 |

771473004 (Papular epidermal nevi with skyline basal cell layers syndrome) | is equivalent to | 313936 |

44444001 (Longitudinal deficiency of ulna) | is equivalent to | 93320 |

1260139006 (Genetic non-syndromic obesity) | is equivalent to | 98267 |

240523007 (Viral hemorrhagic fever) | is equivalent to | 341 |

60475009 (Congenital anomaly of limb) | is equivalent to | 68378 |

771475006 (Young adult-onset distal hereditary motor neuropathy) | is equivalent to | 314485 |

277530005 (Malignant melanoma of meninges) | is equivalent to | 252050 |

1208934006 (Sagliker syndrome) | is equivalent to | 300493 |

718610008 (Congenital pontocerebellar hypoplasia type 1) | is equivalent to | 2254 |

253899000 (Urachal diverticulum) | is equivalent to | 431347 |

236385009 (Drash syndrome) | is equivalent to | 220 |

764105002 (Pseudoxanthoma elasticum-like papillary dermal elastolysis) | is equivalent to | 228293 |

2438005 (Iniencephaly) | is equivalent to | 63259 |

23501004 (Arginase deficiency) | is equivalent to | 90 |

1169366007 (Menstrual cycle dependent periodic fever) | is equivalent to | 498251 |

766704005 (Idiopathic recurrent pericarditis) | is equivalent to | 251307 |

30967002 (Thyrotoxic periodic paralysis) | is equivalent to | 79102 |

274947007 (Divided right atrium) | is equivalent to | 99098 |

716110002 (Upper limb defect with eye and ear abnormalities syndrome) | is equivalent to | 2489 |

80734006 (Marinesco-Sjögren syndrome) | is equivalent to | 559 |

733450008 (Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency) | is equivalent to | 397941 |

1222679006 (Autoimmune interstitial lung disease, arthritis syndrome) | is equivalent to | 444092 |

773768000 (Emery Nelson syndrome) | is equivalent to | 1927 |

63246000 (Cholestanol storage disease) | is equivalent to | 909 |

16476681000119105 (Spontaneous intracranial hypotension) | is equivalent to | 443180 |

1187171005 (SLC39A8 congenital disorder of glycosylation) | is equivalent to | 468699 |

44359008 (Metachromatic leukodystrophy, juvenile type) | is equivalent to | 309263 |

31325007 (Ring chromosome 21 syndrome) | is equivalent to | 1445 |

771510006 (X-linked central congenital hypothyroidism with late-onset testicular enlargement) | is equivalent to | 329235 |

764500002 (Distal trisomy 20q syndrome) | is equivalent to | 96107 |

230297002 (Multiple system atrophy) | is equivalent to | 102 |

4602007 (Robin sequence) | is equivalent to | 718 |

771309000 (Autosomal recessive lymphoproliferative disease) | is equivalent to | 238505 |

783009008 (Pituitary deficiency due to Rathke cleft cysts) | is equivalent to | 91350 |

5963005 (Subacute neuronopathic Gaucher's disease) | is equivalent to | 77261 |

719408007 (Lethal omphalocele with cleft palate syndrome) | is equivalent to | 2736 |

230782004 (Dysequilibrium syndrome) | is equivalent to | 1766 |

61094002 (La Crosse encephalitis) | is equivalent to | 83483 |

1269051002 (Primary desmoplastic nodular medulloblastoma of brain) | is equivalent to | 251863 |

763133008 (Coloboma of inferior eyelid) | is equivalent to | 155889 |

64612002 (Tunga penetrans infestation) | is equivalent to | 879 |

697898008 (Idiopathic pulmonary arterial hypertension) | is equivalent to | 275766 |

782743001 (Huntington disease-like syndrome due to C9ORF72 expansions) | is equivalent to | 401901 |

783616005 (Perilipin 1 related familial partial lipodystrophy) | is equivalent to | 280356 |

719843001 (Morava Mehes syndrome) | is equivalent to | 52056 |

717182006 (Hyperinsulinism due to deficiency of glucokinase) | is equivalent to | 79299 |

124667004 (Deficiency of ribose-5-phosphate isomerase) | is equivalent to | 440706 |

733600007 (Combined oxidative phosphorylation defect type 8) | is equivalent to | 319504 |

254589009 (Intestinal polyposis syndrome) | is equivalent to | 104010 |

721096008 (Diffuse palmoplantar keratoderma and acrocyanosis syndrome) | is equivalent to | 86918 |

722207000 (Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome) | is equivalent to | 199337 |

726618007 (Autosomal recessive limb girdle muscular dystrophy type 2M) | is equivalent to | 206554 |

398250003 (Familial hemophagocytic lymphohistiocytosis) | is equivalent to | 540 |

128206006 (Congenital sensory neuropathy with selective loss of small myelinated fibers) | is equivalent to | 64752 |

16898231000119107 (Erythema multiforme major) | is equivalent to | 502499 |

773771008 (Rare isolated myopia) | is equivalent to | 98619 |

719451006 (Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome) | is equivalent to | 2229 |

698021005 (Autosomal dominant nocturnal frontal lobe epilepsy) | is equivalent to | 98784 |

782773005 (Lethal arteriopathy syndrome due to fibulin-4 deficiency) | is equivalent to | 314718 |

400059005 (Keratosis pilaris atrophicans) | is equivalent to | 498 |

765145001 (T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency) | is equivalent to | 276 |

771306007 (Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome) | is equivalent to | 221043 |

771304005 (Benign nocturnal alternating hemiplegia of childhood) | is equivalent to | 209973 |

33297000 (Hereditary factor II deficiency disease) | is equivalent to | 325 |

360525006 (Congenital gingival granular cell tumor) | is equivalent to | 157826 |

766870005 (Epiphyseal dysplasia, hearing loss, dysmorphism syndrome) | is equivalent to | 1825 |

254843006 (Familial cancer of breast) | is equivalent to | 227535 |

709415008 (Mitochondrial membrane protein associated neurodegeneration) | is equivalent to | 289560 |

720982007 (Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome) | is equivalent to | 86818 |

763278004 (Facial dysmorphism, cleft palate, loose skin syndrome) | is equivalent to | 1779 |

1197588008 (X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome) | is equivalent to | 435938 |

18805001 (Congenital secretory diarrhea, sodium type) | is equivalent to | 103908 |

1268500006 (Primary chromophobe renal cell carcinoma) | is equivalent to | 319303 |

702347001 (Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy) | is equivalent to | 2770 |

715371006 (Cerebellar ataxia and ectodermal dysplasia) | is equivalent to | 1174 |

770655004 (Microcephalus, brain defect, spasticity, hypernatremia syndrome) | is equivalent to | 2523 |

8793008 (Rokitansky sequence) | is equivalent to | 3109 |

722002002 (Scholte syndrome) | is equivalent to | 3041 |

718227006 (Proximal 16p11.2 microdeletion syndrome) | is equivalent to | 261197 |

711156009 (KBG syndrome) | is equivalent to | 2332 |

725028009 (Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation) | is equivalent to | 79330 |

723504000 (Ramos Arroyo syndrome) | is equivalent to | 1051 |

38993008 (Tricho-dento-osseous syndrome) | is equivalent to | 3352 |

717909004 (Bilateral microtia with deafness and cleft palate syndrome) | is equivalent to | 140963 |

8654005 (Ectodermal dysplasia) | is equivalent to | 79373 |

1255268002 (Oculocerebrodental syndrome) | is equivalent to | 557003 |

713060000 (Sporadic Creutzfeldt-Jakob disease) | is equivalent to | 204 |

783249007 (Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection) | is equivalent to | 183666 |

70195006 (Congenital anomaly of superior vena cava) | is equivalent to | 95498 |

722006004 (Isotretinoin-like syndrome) | is equivalent to | 2306 |

18899000 (Schinzel-Giedion syndrome) | is equivalent to | 798 |

703309000 (Familial gestational hyperthyroidism) | is equivalent to | 99819 |

897592003 (Congenital disorder of glycosylation type 1i) | is equivalent to | 79326 |

764845008 (Adenocarcinoma of anal canal) | is equivalent to | 424016 |

415111003 (Plasma cell neoplasm) | is equivalent to | 98282 |

763405000 (Ring chromosome 15 syndrome) | is equivalent to | 96177 |

254078005 (Spondylometaphyseal dysplasia - Sutcliffe type) | is equivalent to | 93315 |

722296002 (Book syndrome) | is equivalent to | 1262 |

409562009 (Inhalational botulism) | is equivalent to | 254504 |

27943000 (Congenital glucose-galactose malabsorption) | is equivalent to | 35710 |

718179003 (Autosomal recessive limb girdle muscular dystrophy type 2B) | is equivalent to | 268 |

37615000 (Tracheobroncheopathia osteoplastica) | is equivalent to | 3348 |

770720005 (Autosomal recessive spastic paraplegia type 58) | is equivalent to | 397946 |

231931001 (Stromal corneal dystrophy) | is equivalent to | 98626 |

1208936008 (Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome) | is equivalent to | 352333 |

444645005 (Dent's disease) | is equivalent to | 1652 |

711543008 (Mandibulofacial dysostosis with microcephaly) | is equivalent to | 79113 |

719844007 (Ulceration of umbilical cord and atresia of intestine syndrome) | is equivalent to | 3405 |

43916004 (Mucopolysaccharidosis, MPS-VII) | is equivalent to | 584 |

720506002 (Deafness and myopia syndrome) | is equivalent to | 363396 |

1237337007 (Extensive peripapillary myelinated nerve fibres of retina) | is equivalent to | 440724 |

400128006 (Lethal tight skin contracture syndrome) | is equivalent to | 1662 |

33316007 (GM2 gangliosidosis) | is equivalent to | 309152 |

18116006 (Cancrum oris) | is equivalent to | 2700 |

1172900005 (Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome) | is equivalent to | 477814 |

188733003 (Chronic eosinophilic leukemia) | is equivalent to | 168940 |

439274008 (Hereditary protein C deficiency) | is equivalent to | 745 |

205506004 (Craniodiaphyseal dysplasia) | is equivalent to | 1513 |

720009004 (Intractable diarrhea with choanal atresia and eye anomaly syndrome) | is equivalent to | 137622 |

719306007 (Steatocystoma multiplex with natal tooth syndrome) | is equivalent to | 3184 |

24750000 (Townes syndrome) | is equivalent to | 857 |

70173007 (5p partial monosomy syndrome) | is equivalent to | 281 |

719811001 (X-linked intellectual disability Cabezas type) | is equivalent to | 85293 |

718614004 (TEMPI syndrome) | is equivalent to | 284227 |

359640008 (Acute myeloid leukemia without maturation, FAB M1) | is equivalent to | 98833 |

439007008 (Acquired thrombotic thrombocytopenic purpura) | is equivalent to | 93585 |

77090002 (Bullous pemphigoid) | is equivalent to | 703 |

764944006 (Congenital muscular dystrophy type 1B) | is equivalent to | 98893 |

770682007 (Rosette-forming glioneuronal neoplasm) | is equivalent to | 251975 |

716279002 (Polyrrhinia) | is equivalent to | 141091 |

725151007 (Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency) | is equivalent to | 319589 |

18260003 (Postpartum psychosis) | is equivalent to | 443173 |

782883004 (Fatal infantile hypertonic myofibrillar myopathy) | is equivalent to | 280553 |

723446006 (Polydactyly of index finger) | is equivalent to | 93337 |

27718001 (Maple syrup urine disease) | is equivalent to | 511 |

21764004 (Renal carnitine transport defect) | is equivalent to | 158 |

461331004 (Malposition of coronary artery orifice) | is equivalent to | 99090 |

29291001 (Glycogen storage disease, type VI) | is equivalent to | 369 |

1285322008 (Triopia) | is equivalent to | 3374 |

10347006 (Solar urticaria) | is equivalent to | 97230 |

765142003 (Proximal 16p11.2 microduplication syndrome) | is equivalent to | 370079 |

82203000 (Treacher Collins syndrome) | is equivalent to | 861 |

230328001 (Isolated oromandibular dystonia) | is equivalent to | 93958 |

764627005 (Mosaic trisomy 3 syndrome) | is equivalent to | 100071 |

239037001 (Curly hair, ankyloblepharon, nail dysplasia syndrome) | is equivalent to | 1401 |

1222658006 (Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome) | is equivalent to | 544488 |

1269050001 (Primary gemistocytic astrocytoma of central nervous system) | is equivalent to | 251604 |

711406009 (Autosomal recessive axonal neuropathy with neuromyotonia) | is equivalent to | 324442 |

778005007 (Duplication of pituitary gland) | is equivalent to | 314621 |

702356009 (PPM-X syndrome) | is equivalent to | 3077 |

267581004 (Progressive myoclonic epilepsy) | is equivalent to | 98261 |

79120002 (Congenital elevation of scapula) | is equivalent to | 3181 |

59981001 (Congenital absence of penis) | is equivalent to | 49 |

723995003 (Schimke immuno-osseous dysplasia) | is equivalent to | 1830 |

254079002 (Spondyloenchondrodysplasia) | is equivalent to | 1855 |

109385007 (Kaposi's sarcoma (clinical)) | is equivalent to | 33276 |

17190001 (Congenital diaphragmatic hernia) | is equivalent to | 2140 |

784344009 (Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation) | is equivalent to | 300570 |

56677004 (Pallister-Hall syndrome) | is equivalent to | 672 |

232059000 (Laurence-Moon syndrome) | is equivalent to | 2377 |

770948004 (Rhizomelic syndrome Urbach type) | is equivalent to | 3098 |

1177167002 (Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome) | is equivalent to | 513456 |

773583007 (Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome) | is equivalent to | 324540 |

1264009006 (Isolated cytochrome C oxidase deficiency) | is equivalent to | 254905 |

722132007 (PAGOD syndrome) | is equivalent to | 991 |

67944007 (Lhermitte-Duclos disease) | is equivalent to | 65285 |

14091009 (12p partial trisomy syndrome) | is equivalent to | 1699 |

254191009 (Localized junctional epidermolysis bullosa) | is equivalent to | 251393 |

722451006 (Gomez Lopez Hernandez syndrome) | is equivalent to | 1532 |

429753001 (Congenital nonprogressive myopathy with Moebius and Robin sequences) | is equivalent to | 1358 |

230228004 (Early onset cerebellar ataxia with retained tendon reflexes) | is equivalent to | 1177 |

717337001 (Syndromic orbital border hypoplasia) | is equivalent to | 98606 |

415176004 (Primary congenital glaucoma) | is equivalent to | 98976 |

773624006 (Primary ameloblastic carcinoma) | is equivalent to | 314422 |

733089005 (Spastic paraplegia, nephritis, deafness syndrome) | is equivalent to | 2820 |

724275005 (Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency) | is equivalent to | 75391 |

65705009 (Porencephalic cyst) | is equivalent to | 2940 |

1186718008 (Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome) | is equivalent to | 457185 |

721194008 (Neuroendocrine neoplasm of stomach) | is equivalent to | 100075 |

763531001 (Familial benign copper deficiency) | is equivalent to | 1551 |

773775004 (High-grade neuroendocrine carcinoma of cervix uteri) | is equivalent to | 213777 |

718615003 (8q21.11 microdeletion syndrome) | is equivalent to | 284160 |

3987009 (Congenital absence of trachea) | is equivalent to | 3346 |

773582002 (Hendra virus infection) | is equivalent to | 324632 |

63479002 (Ancylostomiasis) | is equivalent to | 78 |

719521002 (Benign paroxysmal torticollis of infancy) | is equivalent to | 71518 |

771263004 (Ptosis and vocal cord paralysis syndrome) | is equivalent to | 2997 |

722282008 (Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome) | is equivalent to | 52055 |

773769008 (Ataxia, photosensitivity, short stature syndrome) | is equivalent to | 1184 |

360481003 (Common atrioventricular canal) | is equivalent to | 1329 |

1279834007 (Congenital insensitivity to pain, hyperhidrosis, absence of cutaneous sensory innervation) | is equivalent to | 217399 |

763619009 (White forelock with malformations syndrome) | is equivalent to | 2475 |

61900003 (Longitudinal deficiency of radius) | is equivalent to | 93321 |

398040009 (Hereditary sensory-motor neuropathy, type I) | is equivalent to | 65753 |

58561002 (Diastrophic dysplasia) | is equivalent to | 628 |

720987001 (Aniridia, ptosis, intellectual disability, familial obesity syndrome) | is equivalent to | 1067 |

447351004 (Vanishing white matter disease) | is equivalent to | 135 |

26629001 (Short bowel syndrome) | is equivalent to | 104008 |

715340002 (Autosomal recessive limb girdle muscular dystrophy type 2D) | is equivalent to | 62 |

1172606002 (Idiopathic pleuroparenchymal fibroelastosis) | is equivalent to | 494428 |

193411004 (Dominant drusen) | is equivalent to | 75376 |

72315009 (Inclusion body myositis) | is equivalent to | 611 |

715789009 (Myotonia permanens) | is equivalent to | 99735 |

72922008 (Short rib-polydactyly syndrome, Majewski type) | is equivalent to | 93269 |

716233007 (Steinfeld syndrome) | is equivalent to | 3186 |

239007005 (Hypohidrotic X-linked ectodermal dysplasia) | is equivalent to | 181 |

62501005 (Chondroectodermal dysplasia) | is equivalent to | 289 |

733049004 (Encephalopathy, intracerebral calcification, retinal degeneration syndrome) | is equivalent to | 1261 |

725911008 (TARP syndrome) | is equivalent to | 2886 |

723359002 (Familial acute necrotizing encephalopathy) | is equivalent to | 88619 |

771075004 (Macrothrombocytopenia with mitral valve insufficiency) | is equivalent to | 220448 |

766240006 (Maternal uniparental disomy of chromosome 9) | is equivalent to | 96183 |

403772000 (Cleft palate lateral synechia syndrome) | is equivalent to | 2016 |

439143004 (Simpson-Golabi-Behmel syndrome) | is equivalent to | 373 |

205483007 (Hypochondrogenesis) | is equivalent to | 93297 |

1222706005 (Anterior maxillary protrusion, strabismus, intellectual disability syndrome) | is equivalent to | 562559 |

718096004 (Hepatoportal sclerosis) | is equivalent to | 64743 |

770567006 (Progeroid syndrome Petty type) | is equivalent to | 2963 |

307651005 (Primary myelofibrosis) | is equivalent to | 824 |

89261000 (Isolated thyrotropin deficiency) | is equivalent to | 90674 |

774210006 (Angora hair nevus) | is equivalent to | 370039 |

763535005 (Hyperphalangy) | is equivalent to | 295002 |

1268703006 (Primary peripheral neuroectodermal tumour) | is equivalent to | 370348 |

722231005 (Perlman syndrome) | is equivalent to | 2849 |

777999008 (Hypomyelination with brain stem and spinal cord involvement and leg spasticity) | is equivalent to | 363412 |

1217211002 (Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency) | is equivalent to | 443236 |

718603002 (Phosphoserine aminotransferase deficiency) | is equivalent to | 284417 |

715526002 (Dehydrated hereditary stomatocytosis) | is equivalent to | 3202 |

770560008 (Lissencephaly due to LIS1 mutation) | is equivalent to | 95232 |

768937006 (Extragonadal teratoma) | is equivalent to | 883 |

715734006 (Thyroid hemiagenesis) | is equivalent to | 95719 |

230263009 (Autosomal dominant spastic paraplegia type 17) | is equivalent to | 100998 |

253789002 (Familial intestinal malrotation) | is equivalent to | 508410 |

721876004 (Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency) | is equivalent to | 319547 |

723503006 (Retinal degeneration, nanophthalmos, glaucoma syndrome) | is equivalent to | 1574 |

783057002 (DNA2-related mitochondrial DNA deletion syndrome) | is equivalent to | 352470 |

1231309005 (Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form) | is equivalent to | 254875 |

1197415001 (Susceptibility to infection due to TYK2 deficiency) | is equivalent to | 331226 |

307601000 (Pseudomyxoma peritonei) | is equivalent to | 26790 |

724344004 (Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency) | is equivalent to | 83639 |

719972004 (Haddad syndrome) | is equivalent to | 99803 |

732252005 (Carbohydrate deficient glycoprotein syndrome type 2k) | is equivalent to | 314667 |

1197334002 (Malignant melanoma of uveal tract) | is equivalent to | 39044 |

1172630000 (Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome) | is equivalent to | 488613 |

22440001 (Mooren's ulcer) | is equivalent to | 519408 |

266169003 (Free-living ameba infection) | is equivalent to | 68 |

763400005 (X-linked Charcot-Marie-Tooth disease type 4) | is equivalent to | 101078 |

446682003 (Pediatric autoimmune neuropsychiatric disorder associated with streptococcal infection) | is equivalent to | 66624 |

1172690003 (Propylthiouracil embryofetopathy) | is equivalent to | 485358 |

61959006 (Common arterial trunk (truncus arteriosus)) | is equivalent to | 3384 |

237603002 (Transient neonatal diabetes mellitus) | is equivalent to | 99886 |

439732004 (Myoclonic dystonia) | is equivalent to | 36899 |

1260199008 (Non-syndromic genetic hearing loss) | is equivalent to | 87884 |

717050005 (Autosomal recessive sideroblastic anemia) | is equivalent to | 260305 |

716194005 (Pili torti with developmental delay and neurological abnormality syndrome) | is equivalent to | 2891 |

1268387008 (Primary undifferentiated carcinoma of body of uterus) | is equivalent to | 213721 |

406476007 (Epispadias) | is equivalent to | 93928 |

360619001 (Deficiency of butyrylcholinesterase) | is equivalent to | 132 |

1222704008 (Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy) | is equivalent to | 538096 |

21111006 (Complete trisomy 13 syndrome) | is equivalent to | 3378 |

721846006 (Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome) | is equivalent to | 88637 |

725049005 (Aggressive fibromatosis) | is equivalent to | 873 |

720850008 (Choroidal atrophy and alopecia syndrome) | is equivalent to | 1433 |

715631005 (Chondrodysplasia punctata Toriello type) | is equivalent to | 79347 |

724649000 (Langerhans cell sarcoma) | is equivalent to | 86897 |

774211005 (Severe dermatitis, multiple allergies, metabolic wasting syndrome) | is equivalent to | 369992 |

49465005 (Angioma serpiginosum) | is equivalent to | 95429 |

716652006 (Primary hepatic neuroendocrine carcinoma) | is equivalent to | 100085 |

715317001 (Proximal myotonic myopathy) | is equivalent to | 606 |

36799008 (Glutamate-cysteine ligase deficiency) | is equivalent to | 33574 |

360339005 (Congenital hyperinsulinism) | is equivalent to | 657 |

1254650002 (Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome) | is equivalent to | 457284 |

720492008 (Ankylosing vertebral hyperostosis with tylosis syndrome) | is equivalent to | 2206 |

1234911006 (Congenital cochleovestibular malformation) | is equivalent to | 502305 |

715422002 (Craniotelencephalic dysplasia) | is equivalent to | 1528 |

277950001 (Muscle eye brain disease) | is equivalent to | 588 |

1082761000119106 (Barretts esophagus with high grade dysplasia) | is equivalent to | 231080 |

403438007 (Congenital lower lip pits) | is equivalent to | 141064 |

400085009 (Acrokeratosis verruciformis of Hopf) | is equivalent to | 79151 |

720751000 (Corticosteroid sensitive aseptic abscess syndrome) | is equivalent to | 54251 |

763775000 (Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome) | is equivalent to | 281201 |

1268484002 (Primary synovial sarcoma) | is equivalent to | 3273 |

75316000 (Autoimmune hypoparathyroidism) | is equivalent to | 36913 |

253006001 (Somatostatinoma) | is equivalent to | 97283 |

253136007 (Lobar holoprosencephaly) | is equivalent to | 93924 |

763347000 (X-linked Charcot-Marie-Tooth disease type 6) | is equivalent to | 352675 |

766819001 (Severe lateral tibial bowing with short stature) | is equivalent to | 324307 |

278713008 (Spondyloepiphyseal dysplasia congenita) | is equivalent to | 94068 |

76880004 (Angelman syndrome) | is equivalent to | 72 |

780844005 (Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1) | is equivalent to | 402020 |

403799003 (Congenital hypertrichosis lanuginosa) | is equivalent to | 2222 |

771240009 (Pilodental dysplasia, refractive errors syndrome) | is equivalent to | 2892 |

7903009 (Hallermann-Streiff syndrome) | is equivalent to | 2108 |

399947002 (Progeroid short stature with pigmented nevi) | is equivalent to | 2959 |

763715007 (Familial hyperprolactinemia) | is equivalent to | 397685 |

773662009 (Neonatal inflammatory skin and bowel disease) | is equivalent to | 294023 |

723584003 (Stern Lubinsky Durrie syndrome) | is equivalent to | 3194 |

253997002 (Cleft of soft palate) | is equivalent to | 99772 |

782718007 (Dystonia aphonia syndrome) | is equivalent to | 412217 |

1187194006 (Chronic enteropathy associated with SLCO2A1 gene) | is equivalent to | 468641 |

1268955002 (Primary malignant Triton tumor) | is equivalent to | 252212 |

51626007 (Werner syndrome) | is equivalent to | 902 |

765812004 (Congenital absence of innominate vein) | is equivalent to | 99112 |

231719009 (Dysphagia lusoria) | is equivalent to | 99082 |

65617004 (Veno-occlusive disease of the liver) | is equivalent to | 890 |

707442002 (Congenital pulmonary alveolar proteinosis) | is equivalent to | 264675 |

764696007 (Distal 17p13.3 microdeletion syndrome) | is equivalent to | 261257 |

724066002 (Polysyndactyly and cardiac malformation syndrome) | is equivalent to | 2934 |

720940008 (Hepatic lipase deficiency) | is equivalent to | 140905 |

763209008 (Combined oxidative phosphorylation defect type 9) | is equivalent to | 319509 |

239069005 (Acroerythrokeratoderma) | is equivalent to | 87503 |

765753004 (Autosomal recessive spastic paraplegia type 45) | is equivalent to | 320396 |

1187249005 (VPS11-related autosomal recessive hypomyelinating leukodystrophy) | is equivalent to | 466934 |

721979005 (Lymphedema and cerebral arteriovenous anomaly syndrome) | is equivalent to | 86914 |

763743003 (Intellectual disability, spasticity, ectrodactyly syndrome) | is equivalent to | 1891 |

62042001 (Splenogonadal fusion) | is equivalent to | 457083 |

419900000 (Gelatinous droplike corneal dystrophy) | is equivalent to | 98957 |

722437006 (Ectopia lentis, chorioretinal dystrophy, myopia syndrome) | is equivalent to | 1884 |

74162007 (Progressive intrahepatic cholestasis) | is equivalent to | 172 |

193839007 (Fuchs' corneal dystrophy) | is equivalent to | 98974 |

783773000 (Congenital abnormal number of coronary ostia) | is equivalent to | 99089 |

703268008 (Cerebrofacial arteriovenous metameric syndrome type 3) | is equivalent to | 141199 |

59925007 (Paracoccidioidomycosis) | is equivalent to | 73260 |

764624003 (Mosaic trisomy 20 syndrome) | is equivalent to | 1724 |

721235003 (Hyperinsulinism due to insulin receptor deficiency) | is equivalent to | 263458 |

42376006 (Occipital encephalocele) | is equivalent to | 268823 |

15182000 (Coffin-Lowry syndrome) | is equivalent to | 192 |

58756001 (Huntington's chorea) | is equivalent to | 399 |

1220600004 (RARS-related autosomal recessive hypomyelinating leukodystrophy) | is equivalent to | 438114 |

1237341006 (Intraductal tubulopapillary malignant neoplasm of pancreas) | is equivalent to | 580572 |

10623005 (Fibrous dysplasia of bone) | is equivalent to | 249 |

41013004 (Argininosuccinate lyase deficiency) | is equivalent to | 23 |

40100001 (Obliterative bronchiolitis) | is equivalent to | 1303 |

721535002 (Central neurocytoma of brain) | is equivalent to | 73256 |

721842008 (Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome) | is equivalent to | 2230 |

774083009 (Neonatal autoimmune hemolytic anemia) | is equivalent to | 398109 |

1281843005 (Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome) | is equivalent to | 589856 |

77097004 (Oculopharyngeal muscular dystrophy) | is equivalent to | 270 |

23820006 (Fingerprint myopathy) | is equivalent to | 97232 |

725135004 (Combined immunodeficiency due to CD3gamma deficiency) | is equivalent to | 169082 |

718175009 (Macrophagic myofasciitis) | is equivalent to | 592 |

715827001 (Autosomal recessive dopa responsive dystonia) | is equivalent to | 101150 |

240451000 (Streptococcal toxic shock syndrome) | is equivalent to | 99918 |

719839000 (Tubular renal disease with cardiomyopathy syndrome) | is equivalent to | 73224 |

721200000 (Early-onset X-linked optic atrophy) | is equivalent to | 98890 |

715753001 (Spinocerebellar ataxia type 8) | is equivalent to | 98760 |

389239007 (Raine dysplasia) | is equivalent to | 1832 |

715420005 (Lethal congenital contracture syndrome type 3) | is equivalent to | 137783 |

124354006 (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase) | is equivalent to | 79239 |

763631006 (Short stature, wormian bones, dextrocardia syndrome) | is equivalent to | 2863 |

111584000 (Reticular dysgenesis) | is equivalent to | 33355 |

715430001 (Indomethacin embryofetopathy) | is equivalent to | 1909 |

783094006 (Autosomal recessive spastic paraplegia type 14) | is equivalent to | 100995 |

764946008 (Constitutional mismatch repair deficiency syndrome) | is equivalent to | 252202 |

1208475008 (Cystadenoma of ovary in childhood) | is equivalent to | 206470 |

763688008 (Deafness, encephaloneuropathy, obesity, valvulopathy syndrome) | is equivalent to | 254898 |

240877000 (Cutaneous myiasis) | is equivalent to | 99983 |

784346006 (Navajo neurohepatopathy) | is equivalent to | 255229 |

428111003 (Melioidosis) | is equivalent to | 31202 |

720853005 (Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome) | is equivalent to | 169079 |

447288004 (Poisoning by manganese) | is equivalent to | 306682 |

1255121003 (Classical-like Ehlers-Danlos syndrome type 2) | is equivalent to | 536532 |

254251003 (Fetal minoxidil syndrome) | is equivalent to | 1918 |

62009002 (Adult neuronal ceroid lipofuscinosis) | is equivalent to | 79262 |

118617000 (Burkitt's lymphoma (clinical)) | is equivalent to | 543 |

448105006 (Anomalous origin of pulmonary artery from patent arterial duct) | is equivalent to | 99049 |

767299002 (Toxic effect of mercury and/or mercury compound) | is equivalent to | 330021 |

719103009 (Autosomal recessive spastic paraplegia type 39) | is equivalent to | 139480 |

733096007 (Thyrocerebrorenal syndrome) | is equivalent to | 3327 |

778006008 (Autosomal dominant aplasia and myelodysplasia) | is equivalent to | 314399 |

32614006 (Microglossia) | is equivalent to | 563954 |

111311004 (20p partial trisomy syndrome) | is equivalent to | 261318 |

725164008 (Omodysplasia) | is equivalent to | 2733 |

770434009 (Familial benign flecked retina) | is equivalent to | 363989 |

719102004 (Congenital cataract with ataxia and deafness syndrome) | is equivalent to | 1368 |

39111003 (Louse-borne typhus) | is equivalent to | 83314 |

719209002 (Spinocerebellar ataxia type 13) | is equivalent to | 98768 |

85049009 (Tritanopia) | is equivalent to | 88629 |

237960000 (D-2(OH) glutaric aciduria) | is equivalent to | 79315 |

17901006 (Primary hyperoxaluria) | is equivalent to | 416 |

1187622004 (NUT (nuclear protein in testis) carcinoma) | is equivalent to | 443167 |

716745004 (Sneddon syndrome) | is equivalent to | 820 |

773646003 (PLCG2-associated antibody deficiency and immune dysregulation) | is equivalent to | 300359 |

771442003 (Ogden syndrome) | is equivalent to | 276432 |

1187233008 (Leukocyte adhesion deficiency) | is equivalent to | 2968 |

783698005 (Autosomal dominant spastic paraplegia type 13) | is equivalent to | 100994 |

32891000 (Rotor syndrome) | is equivalent to | 3111 |

784341001 (Amyotrophic lateral sclerosis type 4) | is equivalent to | 357043 |

733622000 (46,XX disorder of sex development with anorectal anomalies syndrome) | is equivalent to | 2973 |

719138006 (X-linked intellectual disability with cubitus valgus and dysmorphism syndrome) | is equivalent to | 85280 |

783156008 (Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome) | is equivalent to | 2492 |

720819006 (Curry Jones syndrome) | is equivalent to | 1553 |

58882000 (Congenital cystic eyeball) | is equivalent to | 519384 |

63247009 (Williams syndrome) | is equivalent to | 904 |

197270009 (Acute hepatic failure) | is equivalent to | 90062 |

718679004 (Mammary digital nail syndrome) | is equivalent to | 238744 |

717785002 (Coloboma of macula with brachydactyly type B syndrome) | is equivalent to | 1471 |

12246008 (Acute neuronopathic Gaucher's disease) | is equivalent to | 77260 |

8933000 (Crigler-Najjar syndrome, type I) | is equivalent to | 79234 |

764518004 (Distal trisomy 2p) | is equivalent to | 96070 |

277545003 (T-cell chronic lymphocytic leukemia) | is equivalent to | 86872 |

1269235004 (Autosomal recessive extra-oral halitosis) | is equivalent to | 562538 |

234458004 (Hypodysfibrinogenemia) | is equivalent to | 248408 |

733312003 (Keratitis caused by infection) | is equivalent to | 519278 |

77503002 (Marburg virus disease) | is equivalent to | 99826 |

118610003 (Hodgkin's disease, lymphocytic depletion (clinical)) | is equivalent to | 98846 |

785298001 (Muscle eye brain disease with bilateral multicystic leukodystrophy) | is equivalent to | 370997 |

40873003 (Sulfite oxidase deficiency syndrome) | is equivalent to | 99731 |

723454008 (Phosphoribosylpyrophosphate synthetase superactivity) | is equivalent to | 3222 |

783242003 (Adult-onset cervical dystonia DYT23 type) | is equivalent to | 420492 |

446449009 (Renal coloboma syndrome) | is equivalent to | 1475 |

1196844004 (Primary malignant astrocytoma of brain) | is equivalent to | 94 |

111307005 (Leprechaunism syndrome) | is equivalent to | 508 |

1260190007 (Ventilator-induced diaphragmatic dysfunction) | is equivalent to | 505395 |

74561007 (Kommerell's diverticulum) | is equivalent to | 99077 |

10741005 (Lipid storage disease) | is equivalent to | 79204 |

124427009 (Deficiency of 3-hydroxyisobutyryl CoA hydrolase) | is equivalent to | 88639 |

1260202003 (Monoclonal mast cell activation syndrome) | is equivalent to | 529468 |

702418009 (Donnai-Barrow syndrome) | is equivalent to | 2143 |

725290000 (Combined immunodeficiency due to partial RAG1 deficiency) | is equivalent to | 231154 |

233901002 (His bundle tachycardia) | is equivalent to | 3283 |

1234828008 (Osteofibrous dysplasia) | is equivalent to | 488265 |

87979003 (Cleft palate) | is equivalent to | 2014 |

786878009 (Anal fistula) | is equivalent to | 228113 |

205258009 (Acrocephalosyndactyly type I) | is equivalent to | 87 |

77365006 (Dihydropyrimidine dehydrogenase deficiency) | is equivalent to | 1675 |

89369001 (Anencephalus) | is equivalent to | 563609 |

783734000 (Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency) | is equivalent to | 279934 |

363732003 (Addison's disease) | is equivalent to | 85138 |

1222656005 (SYNGAP1-related developmental and epileptic encephalopathy) | is equivalent to | 544254 |

783770002 (Alpha-B crystallin-related late-onset myopathy) | is equivalent to | 399058 |

778060000 (COL4A1-related familial vascular leukoencephalopathy) | is equivalent to | 36383 |

1172636006 (Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome) | is equivalent to | 488197 |

1222670005 (GJC2-related late-onset primary lymphedema) | is equivalent to | 568051 |

268274005 (Enchondromatosis) | is equivalent to | 296 |

1271009 (Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome) | is equivalent to | 2698 |

2736005 (Atrophoderma vermiculatum) | is equivalent to | 79100 |

32390006 (Panhypopituitarism) | is equivalent to | 90695 |

205800003 (Gorlin-Chaudhry-Moss syndrome) | is equivalent to | 2095 |

299276009 (Limited systemic sclerosis) | is equivalent to | 220407 |

1172625004 (DDX41-related hematologic malignancy predisposition syndrome) | is equivalent to | 488647 |

1237513008 (Osteosclerotic metaphyseal dysplasia) | is equivalent to | 500548 |

715822007 (Lissencephaly with cerebellar hypoplasia type F) | is equivalent to | 100016 |

253353007 (Divided left atrium) | is equivalent to | 99099 |

715428003 (Skeletal dysplasia with epilepsy and short stature syndrome) | is equivalent to | 1858 |

722955006 (Chronic lymphoproliferative disorder of natural killer cells) | is equivalent to | 512017 |

7297005 (Generalized seborrheic dermatitis of infants) | is equivalent to | 314 |

775908005 (Combined oxidative phosphorylation defect type 17) | is equivalent to | 369913 |

5645008 (Nasal glial heterotopia) | is equivalent to | 141112 |

766817004 (Short stature due to growth hormone secretagogue receptor deficiency) | is equivalent to | 314811 |

1264006004 (NLRC4-related familial cold autoinflammatory syndrome) | is equivalent to | 576349 |

733064004 (Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome) | is equivalent to | 2760 |

725137007 (Neutropenia, monocytopenia, deafness syndrome) | is equivalent to | 2690 |

203467005 (Solitary bone cyst) | is equivalent to | 83468 |

774153002 (Periodic paralysis with transient compartment-like syndrome) | is equivalent to | 397755 |

1208620009 (Multiple mitochondrial dysfunctions syndrome type 3) | is equivalent to | 363424 |

764108000 (Wooly hair with palmoplantar keratoderma syndrome) | is equivalent to | 420686 |

1230019002 (Radiation-induced plexopathy) | is equivalent to | 521123 |

404067008 (Adipocytic liposarcoma) | is equivalent to | 99971 |

87380008 (Congenital absence of vagina) | is equivalent to | 96269 |

763374004 (Autosomal dominant spastic paraplegia type 12) | is equivalent to | 100993 |

721013001 (Heart-hand syndrome type 3) | is equivalent to | 1342 |

60412004 (Infestation by fly larvae) | is equivalent to | 75110 |

67531005 (Spina bifida) | is equivalent to | 823 |

720860004 (Ehlers-Danlos syndrome musculocontractural type) | is equivalent to | 2953 |

700489002 (Sensorineural deafness and male infertility) | is equivalent to | 94064 |

719379001 (Microcephalus with cardiac defect and lung malsegmentation syndrome) | is equivalent to | 2516 |

723578001 (Terminal osseous dysplasia and pigmentary defect syndrome) | is equivalent to | 88630 |

770438007 (Infantile spasm and broad thumb syndrome) | is equivalent to | 3173 |

733062000 (Marfanoid habitus with autosomal recessive intellectual disability syndrome) | is equivalent to | 2463 |

702447002 (Kuskokwim syndrome) | is equivalent to | 1149 |

1260140008 (Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome) | is equivalent to | 521432 |

1234910007 (Congenital straddling and overriding tricuspid valve) | is equivalent to | 95461 |

49428008 (Elastosis perforans serpiginosa) | is equivalent to | 79148 |

65457005 (Endocardial fibroelastosis) | is equivalent to | 2022 |

217670007 (Poisoning caused by scorpion venom) | is equivalent to | 466677 |

1177176009 (Intermediate epidermolysis bullosa simplex with cardiomyopathy) | is equivalent to | 508529 |

64852002 (Sarcosine dehydrogenase deficiency) | is equivalent to | 3129 |

406558002 (African tick bite fever) | is equivalent to | 101334 |

17231009 (Fetal valproate syndrome) | is equivalent to | 1906 |

773665006 (Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome) | is equivalent to | 293967 |

388759003 (Infection caused by Entamoeba histolytica) | is equivalent to | 67 |

230270009 (Frontotemporal dementia) | is equivalent to | 282 |

44940001 (Adenosine deaminase deficiency) | is equivalent to | 277 |

721173005 (Hypotonia cystinuria syndrome) | is equivalent to | 163690 |

13534001 (Camptocormia) | is equivalent to | 1320 |

723612001 (Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome) | is equivalent to | 73245 |

1220574003 (COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation) | is equivalent to | 464443 |

715418007 (Lethal congenital contracture syndrome type 1) | is equivalent to | 1486 |

234619000 (Hereditary C1 esterase inhibitor deficiency - deficient factor) | is equivalent to | 100050 |

239121009 (Syringocystadenoma papilliferum) | is equivalent to | 840 |

718774001 (Spinocerebellar ataxia type 21) | is equivalent to | 98773 |

1268503008 (Primary papillary renal cell carcinoma) | is equivalent to | 319298 |

231930000 (Reis-Bucklers' corneal dystrophy) | is equivalent to | 98961 |

783098009 (Short stature due to partial growth hormone receptor deficiency) | is equivalent to | 314802 |

235760009 (Radiation proctitis) | is equivalent to | 70475 |

26089000 (Trematode infection) | is equivalent to | 1685 |

54064006 (Classical maple syrup urine disease) | is equivalent to | 268145 |

770664009 (Neonatal brainstem dysfunction) | is equivalent to | 137929 |

277189006 (Subacute inflammatory demyelinating polyradiculoneuropathy) | is equivalent to | 206594 |

699866005 (Brown-Vialetto-Van Laere syndrome) | is equivalent to | 97229 |

773579007 (Congenital chronic diarrhea with protein-losing enteropathy) | is equivalent to | 329242 |

92824003 (Neurofibromatosis type 1) | is equivalent to | 636 |

720507006 (Chronic atrial and intestinal dysrhythmia) | is equivalent to | 435988 |

782822006 (Infantile cerebellar and retinal degeneration) | is equivalent to | 313850 |

1197478005 (Primary immunodeficiency with multifaceted aberrant lymphoid immunity) | is equivalent to | 447731 |

1208741006 (SMARCA4-deficient undifferentiated neoplasm of thorax) | is equivalent to | 466962 |

789777007 (Short-limb skeletal dysplasia with severe combined immunodeficiency) | is equivalent to | 935 |

778064009 (Ectopic aldosterone-producing neoplasm) | is equivalent to | 231632 |

720464003 (ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome) | is equivalent to | 978 |

56604005 (Cohen syndrome) | is equivalent to | 193 |

424952003 (Sarcoma of soft tissue) | is equivalent to | 3394 |

732932004 (Autosomal recessive spastic paraplegia type 18) | is equivalent to | 209951 |

716701004 (Epidermolysis bullosa simplex with pyloric atresia) | is equivalent to | 158684 |

54036001 (Oto-palato-digital syndrome, type I) | is equivalent to | 90650 |

1220575002 (Fetal encasement syndrome) | is equivalent to | 465824 |

718124006 (Fatal infantile cytochrome C oxidase deficiency) | is equivalent to | 1561 |

197260007 (Intestinal lymphangiectasis) | is equivalent to | 36204 |

783558004 (Combined oxidative phosphorylation defect type 11) | is equivalent to | 324535 |

232328005 (Dominant sensorineural hearing loss) | is equivalent to | 90635 |

1187615007 (TAFRO syndrome) | is equivalent to | 457077 |

1268631009 (Primary glassy cell carcinoma of cervix uteri) | is equivalent to | 213833 |

715662009 (Iatrogenic Jakob-Creutzfeldt disease) | is equivalent to | 576379 |

277527003 (Melanocytoma of meninges) | is equivalent to | 252046 |

711161006 (Hypochromic microcytic anemia with iron overload) | is equivalent to | 83642 |

398254007 (Pre-eclampsia) | is equivalent to | 275555 |

733416004 (Exostosis, anetoderma, brachydactyly type E syndrome) | is equivalent to | 1962 |

1197428008 (Combined immunodeficiency, enteropathy spectrum) | is equivalent to | 436252 |

770563005 (Maternal uniparental disomy of chromosome 13) | is equivalent to | 97678 |

109841003 (Liver cell carcinoma) | is equivalent to | 88673 |

718104007 (Torsade de pointes with short coupling interval syndrome) | is equivalent to | 51084 |

720956003 (Foix Chavany Marie syndrome) | is equivalent to | 2048 |

71404003 (Lipomatosis dolorosa) | is equivalent to | 36397 |

1220594007 (Pierpont syndrome) | is equivalent to | 487825 |

238731001 (Pseudopelade) | is equivalent to | 129 |

426508001 (Ileal pouchitis) | is equivalent to | 217067 |

702442008 (Ataxia with vitamin E deficiency) | is equivalent to | 96 |

724838009 (Hereditary skin peeling syndrome) | is equivalent to | 817 |

52947006 (Japanische Encephalitis) | is equivalent to | 79139 |

39427000 (Pachyonychia congenita syndrome) | is equivalent to | 2309 |

763740000 (Infantile mercury poisoning) | is equivalent to | 247165 |

719455002 (Cone dystrophy with supernormal rod response) | is equivalent to | 209932 |

238027003 (Adult GM1 gangliosidosis) | is equivalent to | 79257 |

782772000 (Congenital muscular dystrophy with intellectual disability and severe epilepsy) | is equivalent to | 329178 |

782725000 (Autosomal recessive spastic paraplegia type 69) | is equivalent to | 401830 |

721977007 (Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome) | is equivalent to | 137631 |

774084003 (Neonatal antiphospholipid syndrome) | is equivalent to | 398097 |

425708006 (Placental aromatase deficiency) | is equivalent to | 91 |

773750003 (Flat face, microstomia, ear anomaly syndrome) | is equivalent to | 1968 |

763311001 (Adrenomyodystrophy) | is equivalent to | 977 |

716231009 (Spondylocamptodactyly syndrome) | is equivalent to | 3180 |

778000002 (3q26q27 microdeletion syndrome) | is equivalent to | 356947 |

1237228009 (Night blindness, skeletal anomalies, dysmorphism syndrome) | is equivalent to | 1390 |

763406004 (Ring chromosome 16 syndrome) | is equivalent to | 96178 |

773629001 (Onychomatricoma) | is equivalent to | 300512 |

718908009 (X-linked intellectual disability Siderius type) | is equivalent to | 85287 |

124252008 (Deficiency of transaldolase) | is equivalent to | 101028 |

1268888008 (Primary pineal parenchymal tumour of intermediate differentiation) | is equivalent to | 251919 |

719910004 (Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome) | is equivalent to | 1264 |

237249000 (Complete hydatidiform mole) | is equivalent to | 254688 |

722004001 (Agenesis of internal carotid artery) | is equivalent to | 981 |

766767001 (Autosomal recessive spastic paraplegia type 67) | is equivalent to | 401820 |

254869000 (Malignant germ cell tumor of ovary) | is equivalent to | 35807 |

768924008 (Serous cystadenoma of ovary in childhood) | is equivalent to | 563666 |

16242007 (Hereditary orotic aciduria) | is equivalent to | 30 |

238007004 (Partial hypoxanthine-guanine phosphoribosyltransferase deficiency) | is equivalent to | 79233 |

702419001 (Fatty acid hydroxylase associated neurodegeneration) | is equivalent to | 329308 |

36193003 (Thalidomide embryopathy syndrome) | is equivalent to | 3312 |

233646003 (Congenital chylothorax) | is equivalent to | 264688 |

772127009 (White Sutton syndrome) | is equivalent to | 468678 |

404079008 (Extraskeletal myxoid chondrosarcoma) | is equivalent to | 209916 |

1234819007 (Limb girdle muscular dystrophy due to POMK deficiency) | is equivalent to | 445110 |

55852007 (Complete phocomelia of lower limb) | is equivalent to | 294977 |

57838006 (Retinitis pigmentosa-deafness syndrome) | is equivalent to | 886 |

254121000 (Osteopetrosis - intermediate type) | is equivalent to | 210110 |

716697002 (Hereditary persistence of alpha-fetoprotein) | is equivalent to | 168615 |

771515001 (Facial dysmorphism, immunodeficiency, livedo, short stature syndrome) | is equivalent to | 352712 |

711159002 (Histiocytosis-lymphadenopathy plus syndrome) | is equivalent to | 168569 |

190794006 (Gaucher's disease) | is equivalent to | 355 |

5335002 (Phosphoenolpyruvate carboxykinase (GTP) deficiency) | is equivalent to | 2880 |

13449007 (Melnick-Needles syndrome) | is equivalent to | 2484 |

717459000 (Congenital primary megaureter) | is equivalent to | 617 |

770542008 (Isochromosomy Yq) | is equivalent to | 98798 |

238902007 (Multiple symmetrical lipomatosis) | is equivalent to | 2398 |

80544005 (Spongy degeneration of central nervous system) | is equivalent to | 141 |

1237514002 (Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome) | is equivalent to | 502423 |

716857003 (Hereditary pheochromocytoma and paraganglioma) | is equivalent to | 29072 |

51720005 (Gray platelet syndrome) | is equivalent to | 721 |

1156495004 (Dendritic cell sarcoma) | is equivalent to | 86903 |

773498006 (Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency) | is equivalent to | 404493 |

783742004 (Conductive deafness, malformed external ear syndrome) | is equivalent to | 3216 |

111030006 (Howel-Evans' syndrome) | is equivalent to | 2198 |

716192009 (Thong Douglas Ferrante syndrome) | is equivalent to | 2866 |

442300000 (Rhombencephalosynapsis) | is equivalent to | 59315 |

778024005 (Monocytopenia with susceptibility to infections) | is equivalent to | 228423 |

718749004 (Generalized peeling skin syndrome) | is equivalent to | 263543 |

233707008 (High altitude pulmonary edema) | is equivalent to | 330012 |

50866000 (Childhood absence epilepsy) | is equivalent to | 64280 |

718554005 (Medich giant platelet syndrome) | is equivalent to | 370127 |

35868009 (Carcinoid syndrome) | is equivalent to | 100093 |

10087007 (Infection by Schistosoma) | is equivalent to | 1247 |

15545001 (Congenital duplication of uterus) | is equivalent to | 180086 |

205821003 (Congenital contractural arachnodactyly) | is equivalent to | 115 |

715625007 (Growth delay due to insulin-like growth factor I resistance) | is equivalent to | 73273 |

42829009 (Pili multigemini) | is equivalent to | 79492 |

238653005 (Lichen planus pemphigoides) | is equivalent to | 254478 |

715666007 (Charcot-Marie-Tooth disease type IE) | is equivalent to | 90658 |

230418006 (Lennox-Gastaut syndrome) | is equivalent to | 2382 |

253194008 (Aneurysm of the vein of Galen) | is equivalent to | 1053 |

722127006 (Pacman dysplasia) | is equivalent to | 1952 |

254231002 (Congenital wooly hair) | is equivalent to | 170 |

719911000 (Trichodysplasia with amelogenesis imperfecta syndrome) | is equivalent to | 79129 |

41069008 (Langer-Giedion syndrome) | is equivalent to | 502 |

1268635000 (Primary squamous cell carcinoma of colon) | is equivalent to | 423994 |

726029005 (McCune Albright syndrome) | is equivalent to | 562 |

715529009 (Progressive deafness with stapes fixation) | is equivalent to | 3235 |

86252004 (Agenesis of pulmonary artery) | is equivalent to | 980 |

723580007 (Talo-patello-scaphoid osteolysis syndrome) | is equivalent to | 50809 |

719818007 (X-linked spinocerebellar ataxia type 4) | is equivalent to | 85292 |

18546004 (Congenital stenosis of aortic valve) | is equivalent to | 3093 |

715344006 (Neurofibromatosis Noonan syndrome) | is equivalent to | 638 |

763130006 (Cleft palate, large ears, small head syndrome) | is equivalent to | 2013 |

609561005 (Maturity-onset diabetes of the young) | is equivalent to | 552 |

21926007 (Pili annulati) | is equivalent to | 169 |

763366000 (Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome) | is equivalent to | 314051 |

718900002 (Syndromic X-linked intellectual disability type 11) | is equivalent to | 85286 |

1234821002 (Primary intrahepatic lithiasis) | is equivalent to | 480506 |

699306003 (1p36 deletion syndrome) | is equivalent to | 1606 |

41495000 (Disseminated superficial actinic porokeratosis) | is equivalent to | 79152 |

204102004 (Cryptophthalmos syndrome) | is equivalent to | 2052 |

721233005 (Hypergonadotropic hypogonadism with cataract syndrome) | is equivalent to | 2410 |

720851007 (Chondrodysplasia with disorder of sex development syndrome) | is equivalent to | 1422 |

702413000 (RAPADILINO syndrome) | is equivalent to | 3021 |

31248004 (Epignathus) | is equivalent to | 141077 |

715726000 (Spinocerebellar ataxia type 7) | is equivalent to | 94147 |

737580004 (Idiopathic bilateral vestibulopathy) | is equivalent to | 171684 |

715951007 (Acrocallosal syndrome) | is equivalent to | 36 |

232064001 (Wagner syndrome) | is equivalent to | 898 |

763407008 (Ring chromosome Y syndrome) | is equivalent to | 261529 |

764463001 (Mosaic trisomy 12 syndrome) | is equivalent to | 1698 |

719397009 (Mesomelic dysplasia Kantaputra type) | is equivalent to | 1836 |

716721003 (Genetic recurrent myoglobinuria) | is equivalent to | 99845 |

111508004 (Emery-Dreifuss muscular dystrophy) | is equivalent to | 261 |

722383001 (Catel Manzke syndrome) | is equivalent to | 1388 |

717231003 (PFAPA syndrome) | is equivalent to | 42642 |

763134002 (Chondroectodermal dysplasia with night blindness syndrome) | is equivalent to | 319195 |

717158001 (Partial chromosome Y deletion) | is equivalent to | 1646 |

763616002 (Velofacioskeletal syndrome) | is equivalent to | 3424 |

721219005 (Familial Alzheimer-like prion disease) | is equivalent to | 280397 |

723360007 (Familial hypercholanemia) | is equivalent to | 238475 |

67817003 (Pili torti-deafness syndrome) | is equivalent to | 123 |

20815007 (Exstrophy of cloaca sequence) | is equivalent to | 93929 |

240450004 (Staphylococcal toxic shock syndrome) | is equivalent to | 99919 |

28259009 (Crigler-Najjar syndrome) | is equivalent to | 205 |

773415005 (Contiguous ABCD1 DXS1357E deletion syndrome) | is equivalent to | 369942 |

732929002 (Autosomal recessive limb girdle muscular dystrophy type 2S) | is equivalent to | 369840 |

403793002 (Familial painful callosities) | is equivalent to | 79141 |

762195006 (Congenital bronchogenic cyst) | is equivalent to | 2357 |

254957009 (Somatotroph adenoma) | is equivalent to | 96256 |

189948006 (Schwannoma) | is equivalent to | 252164 |

403554008 (Oculocerebrocutaneous syndrome) | is equivalent to | 1647 |

127225006 (Chronic myelomonocytic leukemia) | is equivalent to | 98823 |

726018006 (Autosomal dominant tubulointerstitial kidney disease) | is equivalent to | 34149 |

770941005 (Alopecia, progressive neurological defect, endocrinopathy syndrome) | is equivalent to | 157954 |

1260095004 (Menke Hennekam syndrome) | is equivalent to | 592574 |

1268485001 (Primary non-seminomatous germ cell neoplasm of testis) | is equivalent to | 363494 |

8808004 (Biotinidase deficiency) | is equivalent to | 79241 |

721672004 (Primary mucinous adenocarcinoma of appendix) | is equivalent to | 391723 |

722211006 (Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome) | is equivalent to | 228190 |

715664005 (Interdigitating dendritic cell sarcoma) | is equivalent to | 86900 |

724146008 (Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria) | is equivalent to | 99646 |

1217210001 (Hyperostosis cranialis interna) | is equivalent to | 443098 |

717826009 (Hereditary sensory and autonomic neuropathy with deafness and global delay) | is equivalent to | 139573 |

1187468005 (Autosomal dominant spastic paraplegia type 73) | is equivalent to | 444099 |

716585008 (Lujo hemorrhagic fever) | is equivalent to | 319213 |

254146000 (Infantile myofibromatosis) | is equivalent to | 2591 |

702362004 (Craniofacial deafness hand syndrome) | is equivalent to | 1529 |

29076005 (Meckel-Gruber syndrome) | is equivalent to | 564 |

32659003 (Congenital hypoplasia of kidney) | is equivalent to | 93101 |

253706007 (Anomalous origin of coronary artery from pulmonary arterial tree) | is equivalent to | 541507 |

1162864000 (Familial porencephaly) | is equivalent to | 99810 |

20052008 (Hereditary fructosuria) | is equivalent to | 469 |

232442001 (Congenital laryngeal abductor palsy) | is equivalent to | 2808 |

763895001 (Myosclerosis) | is equivalent to | 289380 |

720460007 (Acute bilateral depigmentation of iris) | is equivalent to | 69736 |

81678004 (Ring chromosome 4 syndrome) | is equivalent to | 1447 |

1208744003 (Non-functioning neuroendocrine neoplasm of pancreas) | is equivalent to | 506075 |

447829000 (Congenital abnormality of tricuspid chordae tendinae) | is equivalent to | 99055 |

766933000 (Idiopathic panuveitis) | is equivalent to | 280921 |

239032007 (Berlin syndrome) | is equivalent to | 1816 |

719664004 (8q22.1 microdeletion syndrome) | is equivalent to | 178303 |

725907002 (Autosomal recessive limb girdle muscular dystrophy type 2Y) | is equivalent to | 424261 |

13978000 (Chronic endophthalmitis) | is equivalent to | 279891 |

764989007 (Mosaic trisomy 9 syndrome) | is equivalent to | 99776 |

718720007 (Lissencephaly type 3 metacarpal bone dysplasia syndrome) | is equivalent to | 86822 |

715735007 (Maternal uniparental disomy of chromosome 20) | is equivalent to | 96186 |

49982000 (Multifocal atrial tachycardia) | is equivalent to | 3282 |

109994006 (Essential thrombocythemia) | is equivalent to | 3318 |

403442005 (Hereditary mucoepithelial dysplasia) | is equivalent to | 1839 |

239030004 (Orofacial-digital syndrome III) | is equivalent to | 2752 |

700058006 (Ataxia-telangiectasia-like disorder) | is equivalent to | 251347 |

763387005 (Best vitelliform macular dystrophy) | is equivalent to | 1243 |

41878001 (Symbrachydactyly) | is equivalent to | 1570 |

4183003 (Charcot-Marie-Tooth disease, type IC) | is equivalent to | 101083 |

699184009 (Perry syndrome) | is equivalent to | 178509 |

1268964007 (Primary anaplastic oligodendroglioma of central nervous system) | is equivalent to | 251630 |

39925003 (Juvenile myopathy, encephalopathy, lactic acidosis, stroke) | is equivalent to | 550 |

15228007 (Atrophia bulborum hereditaria) | is equivalent to | 649 |

782719004 (Autosomal recessive cerebellar ataxia due to STUB1 deficiency) | is equivalent to | 412057 |

733032006 (Epilepsy telangiectasia syndrome) | is equivalent to | 1951 |

447935001 (Left ventricular myocardial noncompaction cardiomyopathy) | is equivalent to | 54260 |

71464000 (Dipygus) | is equivalent to | 1756 |

716198008 (Game Friedman Paradice syndrome) | is equivalent to | 3035 |

720756005 (Craniofacial ulnar renal syndrome) | is equivalent to | 293843 |

718552009 (Familial median cleft of upper and lower lip) | is equivalent to | 401942 |

180234006 (Infectious disorder of the peripheral nervous system) | is equivalent to | 206613 |

771077007 (Intellectual disability, short stature, hypertelorism syndrome) | is equivalent to | 3074 |

763778003 (Larsen-like syndrome B3GAT3 type) | is equivalent to | 284139 |

1172683008 (Microcephaly, congenital cataract, psoriasiform dermatitis syndrome) | is equivalent to | 488168 |

1217229007 (Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome) | is equivalent to | 459061 |

720401009 (Cystic fibrosis with gastritis and megaloblastic anemia syndrome) | is equivalent to | 2575 |

765489006 (Ring chromosome 7 syndrome) | is equivalent to | 1449 |

726020009 (Infestation caused by Cordylobia anthropophaga) | is equivalent to | 563687 |

782751003 (Severe combined immunodeficiency due to IKK2 deficiency) | is equivalent to | 397787 |

403809003 (Dystrophic epidermolysis bullosa inverse type) | is equivalent to | 79409 |

719518004 (Autosomal dominant palmoplantar keratoderma and congenital alopecia) | is equivalent to | 1010 |

783697000 (X-linked spastic paraplegia type 16) | is equivalent to | 100997 |

766710005 (Isolated focal cortical dysplasia) | is equivalent to | 65683 |

716766007 (Malakoplakia) | is equivalent to | 556 |

721843003 (GAPO syndrome) | is equivalent to | 2067 |

702359002 (Congenital stromal corneal dystrophy) | is equivalent to | 101068 |

724177005 (LIG4 syndrome) | is equivalent to | 99812 |

30575002 (Fanconi's anemia) | is equivalent to | 84 |

472827002 (Recurrent respiratory papillomatosis) | is equivalent to | 60032 |

1237617004 (Secondary hypereosinophilic syndrome) | is equivalent to | 314962 |

721841001 (Hypogonadism with mitral valve prolapse and intellectual disability syndrome) | is equivalent to | 2233 |

230240004 (Progressive cerebellar ataxia with hypogonadism) | is equivalent to | 1173 |

15841002 (21q partial monosomy syndrome) | is equivalent to | 574 |

774148007 (Polyglucosan body myopathy type 1) | is equivalent to | 397937 |

85444005 (Disorder of pyrimidine metabolism) | is equivalent to | 79193 |

733068001 (Absent tibia, polydactyly, arachnoid cyst syndrome) | is equivalent to | 3328 |

715470008 (Brachydactylous dwarfism Mseleni type) | is equivalent to | 2619 |

43363007 (Posterior uveitis) | is equivalent to | 280892 |

773644000 (Progeroid and marfanoid aspect, lipodystrophy syndrome) | is equivalent to | 300382 |

1264416003 (Unclassifiable myelodysplastic syndrome) | is equivalent to | 98827 |

41864002 (Autoimmune polyendocrinopathy) | is equivalent to | 282196 |

111310003 (Ring chromosome 11 syndrome) | is equivalent to | 96175 |

52951008 (Congenital dyserythropoietic anemia) | is equivalent to | 85 |

733034007 (Charlie M syndrome) | is equivalent to | 1406 |

1197416000 (Euthyroid Graves orbitopathy) | is equivalent to | 466682 |

111502003 (Fukuyama congenital muscular dystrophy) | is equivalent to | 272 |

254096001 (Kyphomelic dysplasia) | is equivalent to | 1801 |

1279838005 (Hereditary sensory and autonomic neuropathy type 6) | is equivalent to | 314381 |

403983000 (Kaposiform hemangioendothelioma) | is equivalent to | 2122 |

1217382002 (Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome) | is equivalent to | 529965 |

230429005 (Early infantile epileptic encephalopathy with suppression bursts) | is equivalent to | 1934 |

254249002 (Fetal carbamazepine syndrome) | is equivalent to | 370076 |

240613006 (Typhus group rickettsial disease) | is equivalent to | 102023 |

62588002 (Congenital complete absence of limb) | is equivalent to | 294925 |

720755009 (Craniofacial dyssynostosis syndrome) | is equivalent to | 1516 |

253591008 (Pulmonary atresia with ventricular septal defect) | is equivalent to | 1207 |

7199000 (Tuberous sclerosis syndrome) | is equivalent to | 805 |

715652002 (Mesomelic dysplasia Savarirayan type) | is equivalent to | 85170 |

718848000 (Fried syndrome) | is equivalent to | 85335 |

201796004 (Systemic onset juvenile chronic arthritis) | is equivalent to | 85414 |

1216940001 (Joint contractures, developmental delay, Pierre Robin syndrome) | is equivalent to | 436003 |

254090007 (Acromicric dysplasia) | is equivalent to | 969 |

716724006 (Spinocerebellar ataxia type 15/16) | is equivalent to | 98769 |

13555004 (Ring chromosome 22 syndrome) | is equivalent to | 1446 |

784373007 (Beta-mercaptolactate cysteine disulfiduria) | is equivalent to | 1035 |

25913001 (Progressive iris atrophy) | is equivalent to | 98981 |

234392002 (Hemoglobin E/beta thalassemia disease) | is equivalent to | 231249 |

274899008 (Trichofolliculoma) | is equivalent to | 864 |

57863006 (Acid phosphatase deficiency) | is equivalent to | 35121 |

723622007 (X-linked spastic paraplegia type 2) | is equivalent to | 99015 |

1279835008 (Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome) | is equivalent to | 247827 |

783008000 (Pituitary dermoid and epidermoid cysts) | is equivalent to | 91351 |

78018008 (Complete phocomelia of upper limb) | is equivalent to | 294975 |

254093009 (Cranioectodermal dysplasia) | is equivalent to | 1515 |

723386002 (Mendelian susceptibility to mycobacterial disease due to partial STAT1 deficiency) | is equivalent to | 319595 |

715788001 (Myotonia fluctuans) | is equivalent to | 99734 |

720497002 (Anti-human leukocyte antigen hyperimmunization) | is equivalent to | 2194 |

95412009 (Pigmented villonodular synovitis) | is equivalent to | 66627 |

237889002 (Autosomal dominant hypophosphatemic rickets) | is equivalent to | 89937 |

230312006 (Aicardi Goutieres syndrome) | is equivalent to | 51 |

425892007 (Baroreflex failure syndrome) | is equivalent to | 443084 |

716379000 (Acute fatty liver of pregnancy) | is equivalent to | 243367 |

725029001 (Frontonasal dysplasia with alopecia and genital anomaly syndrome) | is equivalent to | 228390 |

201160005 (Acquired hypertrichosis lanuginosa) | is equivalent to | 2221 |

722109008 (Osteocraniostenosis) | is equivalent to | 2763 |

773547003 (13q12.3 microdeletion syndrome) | is equivalent to | 412035 |

783618006 (Lower motor neuron syndrome with late-adult onset) | is equivalent to | 276435 |

22451001 (Primary torsion dystonia) | is equivalent to | 256 |

783182004 (Chronic respiratory distress with surfactant metabolism deficiency) | is equivalent to | 217566 |

93559003 (Hypogonadism with anosmia) | is equivalent to | 478 |

1519002 (Congenital phlebectasia) | is equivalent to | 217008 |

237617006 (Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness) | is equivalent to | 49827 |

1269270002 (Infection-related haemolytic uraemic syndrome) | is equivalent to | 544482 |

385483009 (Osteogenesis imperfecta type III) | is equivalent to | 216812 |

785808002 (Aneurysm osteoarthritis syndrome) | is equivalent to | 284984 |

1162830004 (X-linked lymphoproliferative disease due to XIAP deficiency) | is equivalent to | 538934 |

783738002 (Heart defect, tongue hamartoma, polysyndactyly syndrome) | is equivalent to | 1338 |

1172688004 (Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome) | is equivalent to | 486815 |

698765007 (Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome) | is equivalent to | 42775 |

711409002 (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) | is equivalent to | 352328 |

782879004 (Occipital pachygyria and polymicrogyria) | is equivalent to | 280640 |

763803004 (Morvan syndrome) | is equivalent to | 83467 |

1187506008 (Autosomal recessive spastic paraplegia type 77) | is equivalent to | 466722 |

360378009 (Homogentisate 1,2-dioxygenase deficiency) | is equivalent to | 56 |

720633009 (Cenani Lenz syndrome) | is equivalent to | 3258 |

403810008 (Epidermolysis bullosa pruriginosa) | is equivalent to | 89843 |

43019009 (Nelson syndrome) | is equivalent to | 199244 |

725043006 (Autosomal recessive limb girdle muscular dystrophy type 2O) | is equivalent to | 206564 |

715768000 (Autosomal dominant dopa responsive dystonia) | is equivalent to | 98808 |

764447009 (Distal trisomy 11q) | is equivalent to | 96103 |

47054003 (Septate vagina) | is equivalent to | 180154 |

1279889005 (Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome) | is equivalent to | 521445 |

717192003 (Familial digital arthropathy and brachydactyly syndrome) | is equivalent to | 85169 |

204958008 (Nephronophthisis) | is equivalent to | 655 |

715902009 (Primary orthostatic tremor) | is equivalent to | 238606 |

721147000 (Hidrotic ectodermal dysplasia Halal type) | is equivalent to | 1809 |

1268547002 (Primary epithelioid sarcoma) | is equivalent to | 293202 |

277810000 (Trichodental syndrome) | is equivalent to | 3351 |

711157000 (Sudden infant death with dysgenesis of testes syndrome) | is equivalent to | 168593 |

234568006 (Chronic mucocutaneous candidiasis) | is equivalent to | 1334 |

1263449003 (Isolated encephalocele) | is equivalent to | 199647 |

47024008 (Sickle cell-hemoglobin E disease) | is equivalent to | 251375 |

1268905005 (Primary malignant peripheral nerve sheath tumour) | is equivalent to | 3148 |

719299009 (Pelviscapular dysplasia) | is equivalent to | 93333 |

766760004 (X small rings) | is equivalent to | 96201 |

725592009 (Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization) | is equivalent to | 69063 |

721974000 (Lowry MacLean syndrome) | is equivalent to | 2409 |

783743009 (Combined immunodeficiency with granulomatosis) | is equivalent to | 157949 |

41040004 (Complete trisomy 21 syndrome) | is equivalent to | 870 |

1230096008 (Timothy syndrome) | is equivalent to | 65283 |

255046005 (Neuroendocrine tumor) | is equivalent to | 877 |

17608003 (Child syndrome) | is equivalent to | 139 |

722202006 (Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome) | is equivalent to | 85112 |

702644002 (Congenital stenosis of nasal pyriform aperture) | is equivalent to | 162516 |

770631009 (Genetic transient congenital hypothyroidism) | is equivalent to | 226316 |

111306001 (Multiple lentigines syndrome) | is equivalent to | 500 |

722476007 (Thickened earlobe with conductive deafness syndrome) | is equivalent to | 2405 |

28599006 (Ascher's syndrome) | is equivalent to | 1253 |

1197204009 (Adult hepatocellular carcinoma) | is equivalent to | 210159 |

715780008 (Lissencephaly type 1 due to doublecortin gene mutation) | is equivalent to | 2148 |

1268637008 (Primary MiT family translocation renal cell carcinoma) | is equivalent to | 319308 |

1230270001 (Exstrophy epispadias complex) | is equivalent to | 322 |

9893005 (Immunodeficiency with thymoma) | is equivalent to | 169105 |

722430008 (Distal trisomy 6p syndrome) | is equivalent to | 1745 |

89629006 (Argyria of skin) | is equivalent to | 60014 |

719810000 (X-linked intellectual disability with seizure and psoriasis syndrome) | is equivalent to | 3052 |

253149002 (Type 2 lissencephaly) | is equivalent to | 51577 |

764520001 (Distal trisomy 9q) | is equivalent to | 96101 |

726706008 (4p16.3 microduplication syndrome) | is equivalent to | 96072 |

77956009 (Steinert myotonic dystrophy syndrome) | is equivalent to | 273 |

1162804003 (Hereditary congenital prekallikrein deficiency) | is equivalent to | 749 |

312927001 (Bietti's crystalline retinopathy) | is equivalent to | 41751 |

725167001 (Neuroendocrine neoplasm of appendix) | is equivalent to | 100079 |

717773005 (COG7 congenital disorder of glycosylation) | is equivalent to | 79333 |

1268712008 (Primary malignant mesothelioma of peritoneum) | is equivalent to | 168811 |

444231005 (Thymoma) | is equivalent to | 99867 |

188734009 (Chronic neutrophilic leukemia) | is equivalent to | 86829 |

312898002 (Myopic macular degeneration) | is equivalent to | 178493 |

5619004 (Bardet-Biedl syndrome) | is equivalent to | 110 |

699268002 (Myopathy with deficiency of iron-sulfur cluster assembly enzyme) | is equivalent to | 43115 |

783160006 (AGel amyloidosis) | is equivalent to | 85448 |

66207005 (Toxic effect of cyanide) | is equivalent to | 466670 |

253299006 (Double outlet right ventricle with noncommitted ventricular septal defect) | is equivalent to | 99046 |

715633008 (Atypical Werner syndrome) | is equivalent to | 79474 |

890221004 (Acrocardiofacial syndrome) | is equivalent to | 2008 |

785306007 (Lissencephaly with cerebellar hypoplasia type E) | is equivalent to | 100015 |

707276009 (Hoyeraal-Hreidarsson syndrome) | is equivalent to | 3322 |

770750002 (Intellectual disability, seizures, macrocephaly, obesity syndrome) | is equivalent to | 369950 |

783554002 (Autosomal recessive limb girdle muscular dystrophy type 2U) | is equivalent to | 352479 |

373905003 (Jervell and Lange-Nielsen syndrome) | is equivalent to | 90647 |

718174008 (Infantile striatonigral degeneration) | is equivalent to | 1576 |

715409005 (C syndrome) | is equivalent to | 1308 |

1197746001 (AKT2-related familial partial lipodystrophy) | is equivalent to | 79085 |

787414001 (Oligodontia) | is equivalent to | 99798 |

1197418004 (Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease) | is equivalent to | 436242 |

732251003 (Cortical blindness, intellectual disability, polydactyly syndrome) | is equivalent to | 1389 |

443094001 (Paroxysmal hemicrania) | is equivalent to | 157835 |

773282001 (Macrosomia, microphthalmia, cleft palate syndrome) | is equivalent to | 2432 |

267454002 (Acatalasemia) | is equivalent to | 926 |

783005002 (Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome) | is equivalent to | 1236 |

37981002 (Allergic bronchopulmonary aspergillosis) | is equivalent to | 1164 |

307607001 (Chondromyxoid fibroma of bone) | is equivalent to | 404507 |

783774006 (External auditory canal atresia, vertical talus, hypertelorism syndrome) | is equivalent to | 3023 |

770756008 (2p13.2 microdeletion syndrome) | is equivalent to | 363680 |

93132001 (Lethal Kniest-like syndrome) | is equivalent to | 2347 |

763204003 (Combined oxidative phosphorylation defect type 7) | is equivalent to | 254930 |

414380008 (Hawkinsinuria) | is equivalent to | 2118 |

764453009 (Action myoclonus renal failure syndrome) | is equivalent to | 163696 |

73442001 (Stevens-Johnson-Syndrom) | is equivalent to | 36426 |

721089006 (Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome) | is equivalent to | 71267 |

715577009 (Low phospholipid associated cholelithiasis) | is equivalent to | 69663 |

1833005 (Phacoanaphylactic endophthalmitis) | is equivalent to | 209959 |

1156412000 (Angiocentric glioma of central nervous system) | is equivalent to | 251671 |

816067005 (Woodhouse Sakati syndrome) | is equivalent to | 3464 |

764733009 (Progressive external ophthalmoplegia, myopathy, emaciation syndrome) | is equivalent to | 352447 |

230733004 (Isolated angiitis of central nervous system) | is equivalent to | 140989 |

770678005 (Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome) | is equivalent to | 99807 |

716747007 (Dicarboxylic aminoaciduria syndrome) | is equivalent to | 2195 |

389162001 (Acroscyphodysplasia) | is equivalent to | 1240 |

716336002 (Congenital amegakaryocytic thrombocytopenia) | is equivalent to | 3319 |

415284008 (Myelodysplastic syndrome with excess blasts-2) | is equivalent to | 100020 |

237734007 (ACTH-dependent Cushing's syndrome) | is equivalent to | 99892 |

716743006 (Familial non-autoimmune autosomal dominant hyperthyroidism) | is equivalent to | 424 |

61288004 (Poisoning by venomous snake) | is equivalent to | 449285 |

58833000 (Pseudohypoparathyroidism type I A) | is equivalent to | 79443 |

95479005 (Congenital sclerocornea) | is equivalent to | 91490 |

253920006 (Overgrowth of upper limb) | is equivalent to | 295049 |

26848004 (Chorea acanthocytosis syndrome) | is equivalent to | 2388 |

317349009 (Vernal keratoconjunctivitis) | is equivalent to | 70476 |

726622002 (Spastic paraplegia with Paget disease of bone syndrome) | is equivalent to | 329475 |

239910001 (Toxic oil syndrome) | is equivalent to | 227972 |

128101008 (Platelet factor V deficiency (factor V Quebec)) | is equivalent to | 220436 |

26590002 (Congenital ectropion) | is equivalent to | 99171 |

773688007 (Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids) | is equivalent to | 284448 |

715722003 (Brachydactyly type A6) | is equivalent to | 93382 |

430506003 (Osteochondritis of tibial tubercle) | is equivalent to | 97335 |

410059004 (Hydroxymethylglutaric aciduria) | is equivalent to | 20 |

445738007 (Myelodysplastic/myeloproliferative disease) | is equivalent to | 98275 |

253152005 (Laminar heterotopia) | is equivalent to | 99796 |

765757003 (Bilateral polymicrogyria) | is equivalent to | 268940 |

62110005 (Fetal methyl mercury syndrome) | is equivalent to | 1917 |

238062008 (Infantile Refsum's disease) | is equivalent to | 772 |

719652007 (2p21 microdeletion syndrome) | is equivalent to | 163693 |

733626002 (Atypical Norrie disease due to monosomy Xp11.3) | is equivalent to | 261501 |

725296006 (Mucolipidosis type IV) | is equivalent to | 578 |

782694003 (Non-distal monosomy 12q) | is equivalent to | 96160 |

26865008 (Congenital absence of superior vena cava) | is equivalent to | 99114 |

9128006 (Disorder of the gamma-glutamyl cycle) | is equivalent to | 79196 |

1177166006 (Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome) | is equivalent to | 521308 |

1268461009 (Primary cholangiocarcinoma of biliary tract) | is equivalent to | 70567 |

1260198000 (Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance) | is equivalent to | 567546 |

1149103000 (Citrullinemia type I) | is equivalent to | 247525 |

766977007 (Severe early-onset axonal neuropathy due to mitofusin 2 deficiency) | is equivalent to | 90118 |

764100007 (Primary intraosseous venous malformation) | is equivalent to | 140436 |

1268499002 (Primary collecting duct carcinoma of kidney) | is equivalent to | 247203 |

716245003 (Deafness craniofacial syndrome) | is equivalent to | 3241 |

1268714009 (Primary nephroblastoma) | is equivalent to | 654 |

80908008 (Ornithine carbamoyltransferase deficiency) | is equivalent to | 664 |

715751004 (Spinocerebellar ataxia type 2) | is equivalent to | 98756 |

406575008 (Infection caused by vancomycin resistant Enterococcus) | is equivalent to | 90078 |

234539005 (Immunoglobulin heavy chain deficiency) | is equivalent to | 169110 |

720415006 (Acrorenoocular syndrome) | is equivalent to | 959 |

75355004 (Congenital atresia of external auditory canal) | is equivalent to | 141074 |

1268966009 (Primary gliomatosis cerebri) | is equivalent to | 251582 |

1269277004 (Leukocyte adhesion deficiency type III) | is equivalent to | 99844 |

61663001 (Juvenile neuronal ceroid lipofuscinosis) | is equivalent to | 79264 |

397734008 (Hereditary sensory and autonomic neuropathy type I) | is equivalent to | 36386 |

783161005 (ABri amyloidosis) | is equivalent to | 97345 |

19065005 (Lassa fever) | is equivalent to | 99824 |

64250002 (Fusarium infection) | is equivalent to | 228119 |

389214003 (Ghosal hematodiaphyseal dysplasia) | is equivalent to | 1802 |

773690008 (Microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome) | is equivalent to | 231736 |

715727009 (Pituitary stalk interruption syndrome) | is equivalent to | 95496 |

51169003 (Pneumococcal meningitis) | is equivalent to | 55655 |

8691004 (Acquired ichthyosis) | is equivalent to | 454 |

766246000 (Marburg acute multiple sclerosis) | is equivalent to | 228157 |

719838008 (X-linked hereditary sensory and autonomic neuropathy with deafness) | is equivalent to | 139583 |

90496008 (Generalized epidermolysis bullosa simplex) | is equivalent to | 79399 |

82275008 (Eosinophilic granulomatosis with polyangiitis) | is equivalent to | 183 |

726616006 (Autosomal recessive limb girdle muscular dystrophy type 2L) | is equivalent to | 206549 |

763827002 (Orgasm induced epilepsy) | is equivalent to | 166421 |

87607002 (Pelizaeus-Merzbacher disease, classic form) | is equivalent to | 280219 |

1237619001 (Fatty acyl-CoA reductase 1 deficiency) | is equivalent to | 438178 |

724063005 (Vasculitis due to and following viral infection) | is equivalent to | 48435 |

399091004 (Facioscapulohumeral muscular dystrophy) | is equivalent to | 269 |

771147003 (Isolated arhinencephaly) | is equivalent to | 268936 |

764454003 (Distal trisomy 13q) | is equivalent to | 96105 |

238001003 (Carnitine palmitoyltransferase I deficiency) | is equivalent to | 156 |

773576000 (Progressive retinal dystrophy due to retinol transport defect) | is equivalent to | 352718 |

723336008 (Fallot complex with intellectual disability and growth delay syndrome) | is equivalent to | 3304 |

254778000 (Congenital livedo reticularis) | is equivalent to | 1556 |

52298009 (Linear sebaceous nevus sequence) | is equivalent to | 2612 |

416069001 (Thygeson superficial punctate keratitis) | is equivalent to | 519406 |

774147002 (Charcot-Marie-Tooth disease type 2R) | is equivalent to | 397968 |

773772001 (Rare non-syndromic intellectual disability) | is equivalent to | 101685 |

22504001 (Uterus bilocularis) | is equivalent to | 180122 |

763401009 (Ichthyosis prematurity syndrome) | is equivalent to | 88621 |

303852004 (Lysinuric protein intolerance) | is equivalent to | 470 |

765089003 (Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome) | is equivalent to | 352587 |

1187644009 (Basel Vanagaite Smirin Yosef syndrome) | is equivalent to | 464738 |

230258005 (Amyotrophic lateral sclerosis with dementia) | is equivalent to | 275872 |

715564000 (Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity) | is equivalent to | 53583 |

719298001 (Pelvis shoulder dysplasia) | is equivalent to | 2839 |

31047003 (Lymphomatoid papulosis) | is equivalent to | 98842 |

724224007 (Palmoplantar keratoderma with clinodactyly syndrome) | is equivalent to | 86919 |

11380006 (Mucopolysaccharidosis) | is equivalent to | 79213 |

3731000119107 (Idiopathic hypersomnia) | is equivalent to | 33208 |

770604006 (X-linked cerebral, cerebellar, coloboma syndrome) | is equivalent to | 163961 |

783741006 (Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency) | is equivalent to | 276603 |

719817002 (X-linked spinocerebellar ataxia type 3) | is equivalent to | 85297 |

1208738002 (TMEM199 congenital disorder of glycosylation) | is equivalent to | 466703 |

770946000 (Postaxial tetramelic oligodactyly) | is equivalent to | 2730 |

1167371007 (Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome) | is equivalent to | 500533 |

13649004 (Brachycephaly) | is equivalent to | 35099 |

721879006 (Microphthalmia with linear skin defect syndrome) | is equivalent to | 2556 |

35962006 (Nevus comedonicus) | is equivalent to | 64754 |

111503008 (Merosin deficient congenital muscular dystrophy) | is equivalent to | 258 |

1169356004 (Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome) | is equivalent to | 500144 |

737582007 (Hemiparkinsonism hemiatrophy syndrome) | is equivalent to | 306669 |

403767009 (Acrocephalopolysyndactyly type II) | is equivalent to | 65759 |

398021003 (Connective tissue disease overlap syndrome) | is equivalent to | 251312 |

717012004 (Autosomal dominant Charcot-Marie-Tooth disease type 2E) | is equivalent to | 99939 |

371076006 (Congenital syringomyelia) | is equivalent to | 99856 |

239124001 (Wooly hair nevus) | is equivalent to | 79414 |

716089008 (Harrod syndrome) | is equivalent to | 2115 |

722542000 (Primary squamous cell carcinoma of anal canal) | is equivalent to | 424019 |

2359002 (Hyper-beta-alaninemia) | is equivalent to | 309147 |

398723007 (Verrucous epidermal nevus) | is equivalent to | 79467 |

725149008 (Auricular abnormality, cleft lip, ocular abnormality syndrome) | is equivalent to | 77300 |

1268911008 (Primary pancreatoblastoma) | is equivalent to | 677 |

253828000 (Mullerian aplasia) | is equivalent to | 73217 |

254819008 (B-K mole (nevus) syndrome) | is equivalent to | 404560 |

765471005 (X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome) | is equivalent to | 3055 |

236805000 (Congenital impairment of spermatozoa motility) | is equivalent to | 276234 |

254169002 (Ichthyosis bullosa of Siemens) | is equivalent to | 455 |

9982009 (Poisoning by cocaine) | is equivalent to | 90068 |

723998001 (Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome) | is equivalent to | 3102 |

720496006 (Anophthalmia plus syndrome) | is equivalent to | 1104 |

1157161000 (Meningioma of uncertain behavior) | is equivalent to | 2495 |

371987000 (Primary malignant neoplasm of fallopian tube) | is equivalent to | 180242 |

204145006 (Cornea plana) | is equivalent to | 53691 |

48553001 (Hemoglobin H disease) | is equivalent to | 93616 |

77121009 (X-linked lymphoproliferative syndrome) | is equivalent to | 2442 |

782696001 (Recessive mitochondrial ataxia syndrome) | is equivalent to | 94125 |

773493002 (9q31.1q31.3 microdeletion syndrome) | is equivalent to | 401923 |

238047006 (Beta-D-mannosidosis) | is equivalent to | 118 |

1268908007 (Primary Paget disease of nipple) | is equivalent to | 180275 |

205130008 (Central polydactyly of fingers) | is equivalent to | 295004 |

1179295004 (BVES-related limb girdle muscular dystrophy) | is equivalent to | 476084 |

31097004 (Post poliomyelitis syndrome) | is equivalent to | 2942 |

1236807002 (Encephalopathy due to mitochondrial and peroxisomal fission defect) | is equivalent to | 527276 |

79268002 (POEMS syndrome) | is equivalent to | 2905 |

81604003 (Mulibrey nanism syndrome) | is equivalent to | 2576 |

763774001 (Keipert syndrome) | is equivalent to | 2662 |

719835006 (Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome) | is equivalent to | 65282 |

719510006 (Autosomal dominant Charcot-Marie-Tooth disease type 2F) | is equivalent to | 99940 |

5127009 (Jaw-winking syndrome) | is equivalent to | 91412 |

1197482007 (Susceptibility to localized juvenile periodontitis) | is equivalent to | 447740 |

773727009 (Autosomal dominant rhegmatogenous retinal detachment) | is equivalent to | 209867 |

230265002 (Familial Alzheimer's disease of early onset) | is equivalent to | 1020 |

715434005 (Holoprosencephaly craniosynostosis syndrome) | is equivalent to | 2163 |

111317000 (Congenital absence of nose) | is equivalent to | 1134 |

763714006 (Familial multiple nevi flammei) | is equivalent to | 624 |

69463008 (Maroteaux-Lamy syndrome) | is equivalent to | 583 |

42183005 (Pseudohypoparathyroidism type II) | is equivalent to | 94090 |

52413004 (HNSHA due to glucose phosphate isomerase deficiency) | is equivalent to | 712 |

783203003 (Ataxia with tapetoretinal degeneration syndrome) | is equivalent to | 1178 |

61367005 (Jarcho-Levin syndrome) | is equivalent to | 2311 |

253137003 (Alobar holoprosencephaly) | is equivalent to | 93925 |

55995005 (Hereditary spherocytosis) | is equivalent to | 822 |

718211004 (Ehlers-Danlos syndrome kyphoscoliotic type) | is equivalent to | 536545 |

387759001 (Chronic granulomatous disease) | is equivalent to | 379 |

61003004 (Epidermolysis bullosa) | is equivalent to | 79361 |

254131007 (Worth disease) | is equivalent to | 2790 |

124600004 (Deficiency of aromatic-L-amino-acid decarboxylase) | is equivalent to | 35708 |

778069004 (Autosomal dominant mandibular prognathism) | is equivalent to | 2964 |

720571006 (Brachydactyly type A7) | is equivalent to | 93397 |

1156468009 (Deep partial thickness burn) | is equivalent to | 90076 |

38692000 (Lipid proteinosis) | is equivalent to | 530 |

1172692006 (X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome) | is equivalent to | 482606 |

720954000 (Filippi syndrome) | is equivalent to | 3255 |

707151000 (Uremic pruritus) | is equivalent to | 94059 |

307340003 (Monosomy 7 syndrome) | is equivalent to | 495930 |

719304005 (Spondylometaphyseal dysplasia Schmidt type) | is equivalent to | 93316 |

723451000 (Pili torti onychodysplasia syndrome) | is equivalent to | 2890 |

702428000 (Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome) | is equivalent to | 73229 |

367520004 (Incontinentia pigmenti syndrome) | is equivalent to | 464 |

19719003 (Benign lymphocytic infiltration of Jessner) | is equivalent to | 33314 |

721223002 (Hirschsprung disease with nail hypoplasia and dysmorphism) | is equivalent to | 2153 |

780820008 (Isolated ATP synthase deficiency) | is equivalent to | 254913 |

44917000 (Hymenolepiasis) | is equivalent to | 401 |

1197751007 (LIPE-related familial partial lipodystrophy) | is equivalent to | 435660 |

700211007 (Ulnar mammary syndrome) | is equivalent to | 3138 |

782771007 (Mitochondrial DNA depletion syndrome hepatocerebrorenal form) | is equivalent to | 363534 |

1228842003 (Primary cutaneous plasmacytosis) | is equivalent to | 451602 |

7611002 (Septo-optic dysplasia sequence) | is equivalent to | 3157 |

784377008 (Autosomal dominant epilepsy with auditory features) | is equivalent to | 101046 |

255192005 (Benign cephalic histiocytosis) | is equivalent to | 157997 |

724145007 (Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome) | is equivalent to | 2504 |

111255008 (Osteonecrosis of capital femoral epiphysis) | is equivalent to | 2380 |

41799005 (Hereditary retinal dystrophy) | is equivalent to | 71862 |

238014002 (Dihydropyrimidinase deficiency) | is equivalent to | 38874 |

122811000119101 (Partial androgen insensitivity syndrome) | is equivalent to | 90797 |

38804009 (Turner syndrome) | is equivalent to | 881 |

763128009 (Bipartite talus) | is equivalent to | 364198 |

773691007 (Congenital erosive and vesicular dermatosis) | is equivalent to | 231573 |

763212006 (Combined pancreatic lipase and colipase deficiency) | is equivalent to | 309111 |

309776008 (Costello syndrome) | is equivalent to | 3071 |

716775009 (Nanophthalmia) | is equivalent to | 35612 |

726363000 (Tetraploidy) | is equivalent to | 3305 |

723404002 (Microcephalic osteodysplastic dysplasia Saul Wilson type) | is equivalent to | 85172 |

239888002 (Lupus panniculitis) | is equivalent to | 90285 |

1197359006 (Familial colorectal cancer type X) | is equivalent to | 440437 |

75072002 (Nemaline myopathy) | is equivalent to | 607 |

67653003 (Pretibial epidermolysis bullosa) | is equivalent to | 79410 |

716860005 (Cyclosporosis) | is equivalent to | 210 |

716024001 (GMS syndrome) | is equivalent to | 2090 |

1208987006 (PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome) | is equivalent to | 589905 |

24629003 (Metaphyseal chondrodysplasia, Jansen type) | is equivalent to | 33067 |

1197059004 (Congenital ichthyosis, microcephalus, tetraplegia syndrome) | is equivalent to | 2271 |

733033001 (Spinocerebellar ataxia dysmorphism syndrome) | is equivalent to | 1185 |

203923004 (Acrania) | is equivalent to | 945 |

716094008 (Saito Kuba Tsuruta syndrome) | is equivalent to | 2256 |

725433003 (Autosomal recessive cerebellar ataxia Beauce type) | is equivalent to | 88644 |

725044000 (Carbohydrate deficient glycoprotein syndrome type 1o) | is equivalent to | 263494 |

715425000 (Benign focal seizure of adolescence) | is equivalent to | 1544 |

1268539002 (Primary metaplastic carcinoma of breast) | is equivalent to | 213531 |

417604002 (Axenfeld-Rieger syndrome) | is equivalent to | 782 |

717765001 (CLAPO syndrome) | is equivalent to | 168984 |

763745005 (Intellectual disability Wolff type) | is equivalent to | 3080 |

770758009 (New-onset refractory status epilepticus) | is equivalent to | 363558 |

1217372003 (Severe myopia, generalized joint laxity, short stature syndrome) | is equivalent to | 527450 |

725097006 (Crisponi syndrome) | is equivalent to | 1545 |

827162007 (Malignant immature teratoma of ovary) | is equivalent to | 398987 |

721301004 (Myeloid and lymphoid neoplasm with fibroblast growth factor receptor 1 abnormality) | is equivalent to | 168953 |

717267005 (Left renal vein entrapment syndrome) | is equivalent to | 71273 |

716020005 (Diabetic embryopathy) | is equivalent to | 1926 |

1197429000 (Cathepsin A-related arteriopathy, strokes, leukoencephalopathy) | is equivalent to | 575553 |

230719004 (Subarachnoid hemorrhage due to ruptured aneurysm) | is equivalent to | 90065 |

770404004 (Autosomal recessive chorioretinopathy and microcephaly syndrome) | is equivalent to | 2518 |

724096007 (Congenital disorder of glycosylation type 1f) | is equivalent to | 79323 |

129451001 (Respiratory bronchiolitis associated interstitial lung disease) | is equivalent to | 79127 |

33979003 (Nievergelt's syndrome) | is equivalent to | 2633 |

66865009 (Congenital duplication of esophagus) | is equivalent to | 91357 |

782689003 (Congenital pseudoarthrosis of limb) | is equivalent to | 157808 |

723307008 (Ethylmalonic encephalopathy) | is equivalent to | 51188 |

33116002 (Hydroxykynureninuria) | is equivalent to | 79155 |

397013007 (Solitary cutaneous mastocytoma) | is equivalent to | 79455 |

410039003 (Mycetoma) | is equivalent to | 2583 |

770623004 (Benign occipital lobe epilepsy) | is equivalent to | 25968 |

186499007 (Encephalitis lethargica) | is equivalent to | 83600 |

722061006 (Oculoosteocutaneous syndrome) | is equivalent to | 2713 |

237252008 (Placental site trophoblastic tumor) | is equivalent to | 99928 |

46619002 (Congenital heart block) | is equivalent to | 60041 |

732928005 (Humerus trochlea aplasia) | is equivalent to | 3383 |

732933009 (Autosomal recessive spastic paraplegia type 25) | is equivalent to | 101005 |

1187132007 (Sugarman brachydactyly) | is equivalent to | 498602 |

17818006 (Leri-Weill dyschondrosteosis) | is equivalent to | 240 |

13172003 (Chronic idiopathic thrombocytopenic purpura) | is equivalent to | 3002 |

785727000 (Chronic infantile diarrhea due to guanylate cyclase 2C overactivity) | is equivalent to | 314373 |

23447005 (GTP cyclohydrolase I deficiency) | is equivalent to | 2102 |

34513009 (Zebra body myopathy) | is equivalent to | 97240 |

782886007 (Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome) | is equivalent to | 263410 |

1172705006 (Lethal hydranencephaly, diaphragmatic hernia syndrome) | is equivalent to | 480528 |

721076000 (Siegler Brewer Carey syndrome) | is equivalent to | 3167 |

786076007 (Congenital pit of optic disc) | is equivalent to | 519404 |

770559003 (Leiomyosarcoma of corpus uteri) | is equivalent to | 213625 |

205306000 (Congenital complete absence of upper limb) | is equivalent to | 294967 |

1197489003 (Familial chylomicronemia syndrome) | is equivalent to | 444490 |

1172590009 (Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome) | is equivalent to | 496689 |

720500008 (Aplasia cutis congenita with intestinal lymphangiectasia syndrome) | is equivalent to | 1116 |

235729009 (Congenital microvillous atrophy) | is equivalent to | 2290 |

763632004 (Startle epilepsy) | is equivalent to | 166427 |

725165009 (Autosomal dominant omodysplasia) | is equivalent to | 93328 |

52985009 (Chylous ascites) | is equivalent to | 1160 |

763211004 (Combined oxidative phosphorylation defect type 21) | is equivalent to | 420733 |

187151009 (Diphyllobothriasis) | is equivalent to | 128 |

719380003 (Microcephalus cardiomyopathy syndrome) | is equivalent to | 2515 |

80902009 (Neutral 1 amino acid transport defect) | is equivalent to | 2116 |

445252005 (Glucose transporter protein type 1 deficiency syndrome) | is equivalent to | 71277 |

782752005 (Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome) | is equivalent to | 397744 |

16360009 (Delta beta thalassemia) | is equivalent to | 231237 |

239112008 (Epidermal nevus syndrome) | is equivalent to | 35125 |

11226001 (Fuchs' heterochromic cyclitis) | is equivalent to | 263479 |

721307000 (Transient abnormal myelopoiesis) | is equivalent to | 420611 |

254083002 (Chondrodysplasia punctata, MT type) | is equivalent to | 79346 |

762254000 (Congenital dysplasia of tricuspid valve) | is equivalent to | 555874 |

65455002 (Nasal encephalocele) | is equivalent to | 141118 |

1230004003 (Supratip dysplasia) | is equivalent to | 466695 |

442652006 (Infection by Anisakis larva) | is equivalent to | 1070 |

734026006 (Isolated congenital megalocornea) | is equivalent to | 91489 |

58718002 (Rheumatic fever) | is equivalent to | 3099 |

702450004 (FOXG1 syndrome) | is equivalent to | 561854 |

399995006 (Inflammatory linear verrucous epidermal nevus) | is equivalent to | 79466 |

1268962006 (Primary polyembryoma) | is equivalent to | 180229 |

722055008 (Oculopalatocerebral syndrome) | is equivalent to | 2714 |

718849008 (X-linked neurodegenerative syndrome Bertini type) | is equivalent to | 85334 |

782914000 (Brachydactyly, short stature, retinitis pigmentosa syndrome) | is equivalent to | 166035 |

782935003 (Tremor, nystagmus, duodenal ulcer syndrome) | is equivalent to | 3350 |

1172604004 (DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome) | is equivalent to | 494444 |

1179282009 (Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract) | is equivalent to | 500545 |

716655008 (Aggressive systemic mastocytosis) | is equivalent to | 98850 |

46041001 (Maffucci syndrome) | is equivalent to | 163634 |

20415001 (Progressive sclerosing poliodystrophy) | is equivalent to | 726 |

37548006 (Hypopigmentation-immunodeficiency disease) | is equivalent to | 381 |

717941005 (Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency) | is equivalent to | 91135 |

782829002 (Autosomal dominant Charcot-Marie-Tooth disease type 2O) | is equivalent to | 284232 |

722392003 (Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells) | is equivalent to | 83620 |

237117005 (Endometriosis outside pelvis) | is equivalent to | 137820 |

773622005 (Craniofacial dysplasia osteopenia syndrome) | is equivalent to | 314555 |

699267007 (Myosin storage myopathy) | is equivalent to | 53698 |

720636001 (Cholestasis with pigmentary retinopathy and cleft palate syndrome) | is equivalent to | 1415 |

715632003 (Oculocutaneous albinism type 4) | is equivalent to | 79435 |

763768001 (Autosomal recessive exfoliative ichthyosis) | is equivalent to | 289586 |

717825008 (Hereditary sensory and autonomic neuropathy type 1B) | is equivalent to | 139564 |

783065004 (Autosomal recessive optic atrophy type 7) | is equivalent to | 227976 |

297257004 (Glycerol kinase deficiency - contiguous gene syndrome) | is equivalent to | 261476 |

719207000 (Spinocerebellar ataxia type 11) | is equivalent to | 98767 |

721700001 (Primary malignant neuroendocrine neoplasm of rectum) | is equivalent to | 100081 |

773626008 (Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome) | is equivalent to | 314002 |

1254654006 (X-linked intellectual disability, hypotonia, movement disorder syndrome) | is equivalent to | 457260 |

719665003 (5q35 microduplication syndrome) | is equivalent to | 228415 |

720750004 (Corneal cerebellar syndrome) | is equivalent to | 3177 |

734066005 (Diffuse large B-cell lymphoma of central nervous system) | is equivalent to | 300849 |

425333006 (Myeloproliferative disorder) | is equivalent to | 98274 |

726613003 (Ketamine-induced biliary dilatation) | is equivalent to | 293807 |

733111000 (Congenital disorder of glycosylation type 1w) | is equivalent to | 370921 |

722461004 (Meacham syndrome) | is equivalent to | 3097 |

764623009 (Mosaic trisomy 2 syndrome) | is equivalent to | 1723 |

724642009 (Myeloid neoplasm associated with beta-type platelet-derived growth factor receptor gene rearrangement) | is equivalent to | 168950 |

400040008 (Hereditary lymphedema type II) | is equivalent to | 90186 |

277568007 (Hairy cell leukemia variant) | is equivalent to | 300878 |

715987000 (Sonoda syndrome) | is equivalent to | 1355 |

84438001 (Pure autonomic failure) | is equivalent to | 441 |

719250005 (Spinocerebellar ataxia type 18) | is equivalent to | 98771 |

371627004 (ACE inhibitor-aggravated angioedema) | is equivalent to | 100057 |

403735006 (Eosinophilia-myalgia syndrome from tryptophan) | is equivalent to | 2582 |

722294004 (Autosomal dominant intermediate Charcot-Marie-Tooth disease type E) | is equivalent to | 93114 |

763369007 (Autosomal dominant spastic paraplegia type 37) | is equivalent to | 171612 |

7484005 (Double outlet right ventricle) | is equivalent to | 3426 |

307343001 (Acquired hemoglobin H disease) | is equivalent to | 231401 |

45414006 (Glucocorticoid deficiency with achalasia) | is equivalent to | 869 |

715442006 (Syndactyly of fingers type 8) | is equivalent to | 2498 |

770942003 (Kostmann syndrome) | is equivalent to | 99749 |

723676007 (Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome) | is equivalent to | 94066 |

784372002 (Familial mesial temporal lobe epilepsy with febrile seizures) | is equivalent to | 165805 |

254129003 (Osteopathia striata with cranial sclerosis) | is equivalent to | 2780 |

28488007 (Hyperkeratosis lenticularis perstans) | is equivalent to | 409 |

1197593006 (Intellectual disability, expressive aphasia, facial dysmorphism syndrome) | is equivalent to | 436151 |

232373003 (Choanal atresia with radial ray hypoplasia) | is equivalent to | 3026 |

360455002 (Coats' disease) | is equivalent to | 190 |

718212006 (TMEM70 related mitochondrial encephalo-cardio-myopathy) | is equivalent to | 1194 |

373425009 (Corneal endotheliitis) | is equivalent to | 137602 |

719456001 (Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome) | is equivalent to | 2001 |

56271007 (Hypothermia-sweating syndrome) | is equivalent to | 29822 |

231896005 (Acanthamoeba keratitis) | is equivalent to | 67043 |

720609003 (Cardiomyopathy with cataract and hip spine disease syndrome) | is equivalent to | 1345 |

109478007 (Kohlschutter's syndrome) | is equivalent to | 1946 |

290680001 (Methotrexate poisoning) | is equivalent to | 565782 |

230413002 (Juvenile absence epilepsy) | is equivalent to | 1941 |

253528005 (Arrhythmogenic right ventricular dysplasia) | is equivalent to | 247 |

771272007 (Congenital muscular dystrophy due to LMNA mutation) | is equivalent to | 157973 |

766987006 (Moebius syndrome) | is equivalent to | 570 |

1268502003 (Primary embryonal sarcoma of liver) | is equivalent to | 178315 |

389263004 (Astley-Kendall dysplasia) | is equivalent to | 85175 |

238044004 (Mucopolysaccharidosis, MPS-IV-B) | is equivalent to | 309310 |

783205005 (Alopecia antibody deficiency) | is equivalent to | 1006 |

52636001 (Actinic reticuloid) | is equivalent to | 330064 |

720466001 (Adult-onset dystonia parkinsonism) | is equivalent to | 199351 |

1162918009 (Infective dermatitis associated with human T-cell lymphotropic virus 1 infection) | is equivalent to | 289347 |

768554008 (Hypermanganesemia with dystonia 2) | is equivalent to | 521406 |

1264081007 (Persistent left superior vena cava connecting through coronary sinus to left sided atrium) | is equivalent to | 99109 |

15123008 (Familial amyloid nephropathy with urticaria AND deafness) | is equivalent to | 575 |

17568006 (Sclerosteosis) | is equivalent to | 3152 |

716771000 (Chronic hiccup) | is equivalent to | 396 |

33595009 (Arachnoid cyst) | is equivalent to | 2356 |

430042004 (Acute pandysautonomia) | is equivalent to | 231457 |

719450007 (Disorder of sex development with intellectual disability syndrome) | is equivalent to | 2983 |

231996009 (Central areolar choroidal sclerosis) | is equivalent to | 75377 |

721095007 (Diaphragmatic defect, limb deficiency, skull defect syndrome) | is equivalent to | 2141 |

733044009 (Dermatoleukodystrophy) | is equivalent to | 1659 |

34287003 (Sinus histiocytosis with massive lymphadenopathy) | is equivalent to | 158014 |

439702007 (Hereditary protein S deficiency) | is equivalent to | 743 |

784392009 (Adult chronic idiopathic neutropenia) | is equivalent to | 2688 |

61860000 (Porphyria cutanea tarda) | is equivalent to | 101330 |

1269177007 (Acute tricyclic antidepressant poisoning) | is equivalent to | 43117 |

237946002 (Partial deficiency of methylmalonyl-CoA mutase) | is equivalent to | 79312 |

192644005 (Meningococcal meningitis) | is equivalent to | 33475 |

722434004 (Dysspondyloenchondromatosis) | is equivalent to | 85198 |

41545003 (Whipple's disease) | is equivalent to | 3452 |

18910001 (Cleft uvula) | is equivalent to | 99771 |

275446004 (Painful bruising syndrome) | is equivalent to | 324636 |

764849002 (Amyloidosis cutis dyschromia) | is equivalent to | 319635 |

733112007 (Congenital disorder of glycosylation type 1x) | is equivalent to | 370924 |

715215007 (WAGR syndrome) | is equivalent to | 893 |

719041000 (Upington disease) | is equivalent to | 3408 |

234380002 (Kell isoimmunization of the newborn) | is equivalent to | 275944 |

31712002 (Primary biliary cholangitis) | is equivalent to | 186 |

770669004 (Paternal uniparental disomy of chromosome 5) | is equivalent to | 96190 |

723721007 (Sensorineural hearing loss, early graying, essential tremor syndrome) | is equivalent to | 66633 |

1237571004 (Benign familial infantile epilepsy) | is equivalent to | 306 |

722379001 (Congenital cataract with hypertrichosis and intellectual disability syndrome) | is equivalent to | 1375 |

63042009 (Congenital atresia of tricuspid valve) | is equivalent to | 1209 |

69093006 (Rothmund-Thomson syndrome) | is equivalent to | 2909 |

702443003 (Auriculo-condylar syndrome) | is equivalent to | 137888 |

720827002 (Multiple mitochondrial dysfunctions syndrome) | is equivalent to | 289573 |

1169363004 (Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome) | is equivalent to | 498485 |

39788007 (Ectrodactyly-ectodermal dysplasia-clefting syndrome) | is equivalent to | 1896 |

192782005 (Galactosylceramide beta-galactosidase deficiency) | is equivalent to | 487 |

359686005 (Van Bogaert's sclerosing leukoencephalitis) | is equivalent to | 2806 |

722122000 (Overgrowth, macrocephaly, facial dysmorphism syndrome) | is equivalent to | 137634 |

782746009 (Autosomal recessive spastic paraplegia type 60) | is equivalent to | 401800 |

770626007 (Congenital Horner syndrome) | is equivalent to | 91413 |

700062000 (Schöpf-Schulz-Passarge syndrome) | is equivalent to | 50944 |

38795005 (Sialidosis) | is equivalent to | 309294 |

1208747005 (ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement) | is equivalent to | 457375 |

204312002 (Ventricular septal defect between left ventricle and right atrium) | is equivalent to | 99095 |

720951008 (Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3) | is equivalent to | 168566 |

770630005 (Distal hereditary motor neuropathy type 1) | is equivalent to | 139518 |

235724004 (Acquired short bowel syndrome) | is equivalent to | 95427 |

79607001 (Congenital hepatic fibrosis) | is equivalent to | 485426 |

60876000 (Gardner syndrome) | is equivalent to | 79665 |

1268717002 (Primary oligodendroglioma) | is equivalent to | 251627 |

448915004 (Cleft of hard palate) | is equivalent to | 101023 |

239035009 (Ectodermal dysplasia with hair-nail defect) | is equivalent to | 69084 |

26745009 (Mucopolysaccharidosis, MPS-I-H/S) | is equivalent to | 93476 |

719218000 (Cryptogenic organizing pneumonia) | is equivalent to | 1302 |

724999003 (Isolated hypoplasia of optic nerve) | is equivalent to | 637061 |

234608003 (Terminal component deficiency) | is equivalent to | 169150 |

711158005 (Spinocerebellar ataxia type 36) | is equivalent to | 276198 |

33410002 (Marshall syndrome) | is equivalent to | 560 |

70348004 (Pendred's syndrome) | is equivalent to | 705 |

722064003 (Odontoleukodystrophy) | is equivalent to | 77295 |

724170007 (Mesoaxial synostotic syndactyly with phalangeal reduction syndrome) | is equivalent to | 157801 |

723994004 (Seizures and intellectual disability due to hydroxylysinuria) | is equivalent to | 79156 |

44423001 (Early myoclonic encephalopathy) | is equivalent to | 1935 |

770683002 (Secondary syringomyelia) | is equivalent to | 99857 |

63684002 (Hereditary hollow viscus myopathy) | is equivalent to | 2604 |

418818005 (Brugada syndrome) | is equivalent to | 130 |

715645004 (Hereditary thermosensitive neuropathy) | is equivalent to | 84093 |

1156407001 (Myxopapillary ependymoma of spinal cord) | is equivalent to | 251643 |

765221009 (Papular xanthoma) | is equivalent to | 158008 |

771223000 (Infantile epileptic dyskinetic encephalopathy) | is equivalent to | 364063 |

422437002 (X-linked intellectual disability with marfanoid habitus) | is equivalent to | 776 |

715506001 (Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome) | is equivalent to | 2878 |

711482008 (Cerebroretinal microangiopathy with calcifications and cysts) | is equivalent to | 313838 |

719595002 (Absence of fingerprints with congenital milia syndrome) | is equivalent to | 1658 |

1217228004 (X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome) | is equivalent to | 459070 |

778045003 (Susceptibility to viral and mycobacterial infection) | is equivalent to | 391311 |

78642008 (Ocular albinism, type I) | is equivalent to | 54 |

702617007 (Acute generalized exanthematous pustulosis) | is equivalent to | 293173 |

1187124004 (Apolipoprotein A-IV amyloidosis) | is equivalent to | 439232 |

58258004 (Infantile neuronal ceroid lipofuscinosis) | is equivalent to | 79263 |

763615003 (Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome) | is equivalent to | 1110 |

716787002 (Extraventricular neurocytoma) | is equivalent to | 251927 |

785725008 (Palmoplantar keratoderma, spastic paralysis syndrome) | is equivalent to | 2201 |

722280000 (Ackerman syndrome) | is equivalent to | 2561 |

773728004 (Corticosteroid-binding globulin deficiency) | is equivalent to | 199247 |

724176001 (Lipodystrophy due to peptidic growth factors deficiency) | is equivalent to | 1979 |

1208985003 (Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies) | is equivalent to | 589608 |

17234001 (Allantoic cyst) | is equivalent to | 488 |

773305003 (Microcephaly, polymicrogyria, corpus callosum agenesis syndrome) | is equivalent to | 171703 |

786041005 (Congenital systemic arteriovenous fistula) | is equivalent to | 2039 |

783553008 (Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome) | is equivalent to | 357332 |

764096006 (Male infertility with teratozoospermia due to single gene mutation) | is equivalent to | 399808 |

763744009 (Intellectual disability, brachydactyly, Pierre Robin syndrome) | is equivalent to | 364577 |

719278006 (Primary dystonia type 13) | is equivalent to | 98807 |

79261008 (Van der Woude syndrome) | is equivalent to | 888 |

773328002 (Infantile onset panniculitis with uveitis and systemic granulomatosis) | is equivalent to | 251304 |

1228860003 (Spondyloepiphyseal dysplasia Stanescu type) | is equivalent to | 459051 |

763713000 (Idiopathic CD4 lymphocytopenia) | is equivalent to | 228000 |

190787008 (Abetalipoproteinemia) | is equivalent to | 14 |

416633008 (Congenital hereditary endothelial dystrophy type 1) | is equivalent to | 98975 |

254784002 (Blue rubber bleb nevus) | is equivalent to | 1059 |

765401006 (Mitochondrial DNA depletion syndrome encephalomyopathic form) | is equivalent to | 254803 |

718764004 (Spondyloepiphyseal dysplasia Reardon type) | is equivalent to | 163662 |

733037000 (German syndrome) | is equivalent to | 2077 |

403790004 (Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu) | is equivalent to | 1336 |

716994006 (Behavioral variant of frontotemporal dementia) | is equivalent to | 275864 |

238092004 (Fish-eye disease) | is equivalent to | 79292 |

720457000 (Acropectorovertebral dysplasia) | is equivalent to | 957 |

1268706003 (Primary malignant granulosa cell tumour of ovary) | is equivalent to | 99915 |

715426004 (X-linked corneal dermoid) | is equivalent to | 1661 |

765486004 (Ring chromosome 3 syndrome) | is equivalent to | 96172 |

73397007 (Heparin-induced thrombocytopenia) | is equivalent to | 3325 |

722288007 (Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome) | is equivalent to | 391487 |

771261002 (Digital extensor muscle aplasia with polyneuropathy) | is equivalent to | 2926 |

789156003 (Focal facial dermal dysplasia) | is equivalent to | 398166 |

773501006 (Epidermolysis bullosa simplex due to BP230 deficiency) | is equivalent to | 412181 |

725046003 (Acyl-CoA dehydrogenase 9 deficiency) | is equivalent to | 99901 |

1208746001 (Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome) | is equivalent to | 457365 |

27312002 (High molecular weight kininogen deficiency) | is equivalent to | 483 |

717330004 (Spondyloepimetaphyseal dysplasia Irapa type) | is equivalent to | 93351 |

32883009 (Oral submucosal fibrosis) | is equivalent to | 357154 |

29352008 (Thanatophoric dysplasia) | is equivalent to | 2655 |

13003007 (Cystathioninuria) | is equivalent to | 212 |

734022008 (Wolfram-like syndrome) | is equivalent to | 411590 |

1162837001 (Symphalangism Cushing type) | is equivalent to | 3250 |

1186725001 (Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome) | is equivalent to | 568056 |

783007005 (Recurrent Neisseria infection due to factor D deficiency) | is equivalent to | 169467 |

9417000 (Platelet dense granule deficiency) | is equivalent to | 248340 |

56692003 (Rhizomelic chondrodysplasia punctata syndrome) | is equivalent to | 177 |

719989007 (Autosomal dominant limb girdle muscular dystrophy type 1F) | is equivalent to | 55595 |

766872002 (Parkinsonism caused by cyanide) | is equivalent to | 306692 |

787091002 (Adenocarcinoma of liver and intrahepatic biliary tract) | is equivalent to | 424943 |

763618001 (Wiedemann Steiner syndrome) | is equivalent to | 319182 |

186772009 (Rocky Mountain spotted fever) | is equivalent to | 83311 |

6204001 (Juvenile myoclonic epilepsy) | is equivalent to | 307 |

1260463008 (Isolated focal non-epidermolytic palmoplantar keratoderma) | is equivalent to | 448264 |

65389002 (Adrenoleukodystrophy) | is equivalent to | 43 |

4434006 (Bloom syndrome) | is equivalent to | 125 |

314558005 (Fungal keratitis) | is equivalent to | 519930 |

197441003 (Primary sclerosing cholangitis) | is equivalent to | 171 |

723823004 (Autosomal recessive spastic paraplegia type 53) | is equivalent to | 319199 |

723828008 (Autosomal recessive bestrophinopathy) | is equivalent to | 139455 |

719827008 (X-linked immunoneurologic disorder) | is equivalent to | 2571 |

60983006 (Congenital esophagotracheal fistula) | is equivalent to | 454750 |

782726004 (Autosomal recessive spastic paraplegia type 71) | is equivalent to | 401840 |

25606004 (Ehlers-Danlos syndrome, hydroxylysine-deficient) | is equivalent to | 1900 |

733038005 (Dysmorphism, pectus carinatum, joint laxity syndrome) | is equivalent to | 2104 |

724279004 (Combined oxidative phosphorylation defect type 5) | is equivalent to | 137908 |

778046002 (Somatomammotropinoma) | is equivalent to | 314769 |

237733001 (Diencephalic syndrome) | is equivalent to | 1672 |

721074002 (Short stature due to primary acid labile subunit deficiency) | is equivalent to | 140941 |

425868004 (Benign papilloma of choroid plexus) | is equivalent to | 2807 |

733605002 (XY type gonadal dysgenesis with associated anomalies syndrome) | is equivalent to | 1770 |

118615008 (Malignant mast cell tumor (clinical)) | is equivalent to | 66661 |

771078002 (Immunodeficiency due to MASP-2 deficiency) | is equivalent to | 331187 |

404071006 (Pleomorphic liposarcoma) | is equivalent to | 99969 |

70273001 (Poisoning caused by acetaminophen) | is equivalent to | 464458 |

702379005 (Hypomyelination and congenital cataract) | is equivalent to | 85163 |

716107009 (Early onset parkinsonism and intellectual disability syndrome) | is equivalent to | 2379 |

774155009 (Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome) | is equivalent to | 397623 |

47683004 (Metachromatic leukodystrophy, late infantile type) | is equivalent to | 309256 |

717811007 (Combined immunodeficiency due to CRAC (calcium release activated calcium) channel dysfunction) | is equivalent to | 169090 |

1187123005 (Mixed phenotype acute leukemia) | is equivalent to | 530995 |

720986005 (Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome) | is equivalent to | 69088 |

403661001 (Lipoatrophy caused by injected drug) | is equivalent to | 90157 |

128596003 (Medium-chain acyl-coenzyme A dehydrogenase deficiency) | is equivalent to | 42 |

403390002 (Primary erythromelalgia) | is equivalent to | 90026 |

732951005 (Mitochondrial myopathy, lactic acidosis, deafness syndrome) | is equivalent to | 2597 |

30287008 (Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome) | is equivalent to | 415 |

787174003 (Intellectual disability, hyperkinetic movement, truncal ataxia syndrome) | is equivalent to | 369847 |

771236000 (Visceral calciphylaxis) | is equivalent to | 280068 |

715530004 (Tetrasomy of short arm of chromosome 9) | is equivalent to | 3310 |

702417004 (Emanuel syndrome) | is equivalent to | 96170 |

254739004 (Elastofibroma of skin) | is equivalent to | 228243 |

1187510006 (Immunoglobulin G4 related ophthalmic disease) | is equivalent to | 449563 |

715653007 (Spondylo-ocular syndrome) | is equivalent to | 85194 |

239063006 (Erythrokeratoderma progressiva of Gottron) | is equivalent to | 316 |

1186730002 (Gabriele-de Vries syndrome) | is equivalent to | 506358 |

60684003 (SAPHO syndrome) | is equivalent to | 793 |

717407006 (Congenital plasminogen activator inhibitor deficiency type 1) | is equivalent to | 465 |

239021007 (Hypodontia and nail dysgenesis) | is equivalent to | 2228 |

16541001 (Gelbfieber) | is equivalent to | 99829 |

719517009 (Autosomal dominant optic atrophy and cataract) | is equivalent to | 67036 |

733031004 (Epilepsy, microcephaly, skeletal dysplasia syndrome) | is equivalent to | 1948 |

771271000 (Steroid-responsive encephalopathy associated with autoimmune thyroiditis) | is equivalent to | 83601 |

789676005 (Blue cone monochromatism) | is equivalent to | 16 |

1172697000 (X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability) | is equivalent to | 480880 |

1172594000 (Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome) | is equivalent to | 495875 |

720941007 (ALG1 congenital disorder of glycosylation) | is equivalent to | 79327 |

723403008 (Microbrachycephaly, ptosis, cleft lip syndrome) | is equivalent to | 2511 |

1255267007 (Mirror-image polydactyly) | is equivalent to | 498494 |

26624006 (Anodontia) | is equivalent to | 99797 |

88393000 (Sanfilippo syndrome) | is equivalent to | 581 |

448710000 (Sarcoma of bone) | is equivalent to | 223727 |

230256009 (Benign monomelic amyotrophy) | is equivalent to | 65684 |

732950006 (Ichthyosis, oral and digital anomalies syndrome) | is equivalent to | 2272 |

389171005 (Yunis-Varon dysplasia) | is equivalent to | 3472 |

1144805008 (Microscopic polyangiitis) | is equivalent to | 727 |

75331009 (Evans syndrome) | is equivalent to | 1959 |

20392000 (Congenital entropion) | is equivalent to | 519386 |

770603000 (X-linked spondyloepimetaphyseal dysplasia) | is equivalent to | 93349 |

783096008 (Subaortic stenosis and short stature syndrome) | is equivalent to | 3191 |

86044005 (Amyotrophic lateral sclerosis) | is equivalent to | 803 |

1269042005 (Primary protoplasmic astrocytoma of brain) | is equivalent to | 251598 |

703334000 (Arteriovenous malformation of mandible) | is equivalent to | 141174 |

771512003 (Autism spectrum disorder due to AUTS2 deficiency) | is equivalent to | 352490 |

770727008 (Spinal muscular atrophy with respiratory distress type 2) | is equivalent to | 404521 |

1208340009 (Neurofibromatosis type 6) | is equivalent to | 2678 |

764957003 (King Denborough syndrome) | is equivalent to | 99741 |

238061001 (Neonatal adrenoleukodystrophy) | is equivalent to | 44 |

715725001 (Syndactyly type 3) | is equivalent to | 93404 |

11817007 (Actinomycotic infection) | is equivalent to | 457095 |

1172838005 (Hereditary sensory and autonomic neuropathy type 8) | is equivalent to | 478664 |

763864008 (Persistent polyclonal B-cell lymphocytosis) | is equivalent to | 300324 |

111504002 (Walker-Warburg congenital muscular dystrophy) | is equivalent to | 899 |

5388008 (Congenital lactase deficiency) | is equivalent to | 53690 |

773641008 (Onychocytic matricoma) | is equivalent to | 300504 |

267372009 (Congenital non bullous ichthyosiform erythroderma) | is equivalent to | 79394 |

3073006 (Ruvalcaba syndrome) | is equivalent to | 3121 |

719405005 (Leukoencephalopathy with metaphyseal chondrodysplasia syndrome) | is equivalent to | 83629 |

770565003 (Microcephalic primordial dwarfism Dauber type) | is equivalent to | 319675 |

768932000 (Coloboma of choroid and retina) | is equivalent to | 98942 |

764737005 (Squamous cell carcinoma of corpus uteri) | is equivalent to | 213716 |

771265006 (Teebi Shaltout syndrome) | is equivalent to | 3291 |

771307003 (Charcot-Marie-Tooth disease type 2B5) | is equivalent to | 228374 |

773230003 (Cyclin-dependent kinase-like 5 deficiency) | is equivalent to | 505652 |

715419004 (Lethal congenital contracture syndrome type 2) | is equivalent to | 137776 |

55133004 (Multi-core congenital myopathy) | is equivalent to | 598 |

1268898002 (Primary mixed oligoastrocytoma) | is equivalent to | 251656 |

1222666002 (EPHB4-related lymphatic-related hydrops fetalis) | is equivalent to | 568065 |

254886006 (Squamous cell carcinoma of cervix) | is equivalent to | 213767 |

765746008 (Autosomal dominant intermediate Charcot-Marie-Tooth disease type C) | is equivalent to | 100045 |

718176005 (Autosomal recessive limb girdle muscular dystrophy type 2C) | is equivalent to | 353 |

773308001 (Autosomal recessive intermediate Charcot-Marie-Tooth disease type A) | is equivalent to | 217055 |

400954002 (Euryblepharon) | is equivalent to | 99172 |

26409005 (Congenital dyserythropoietic anemia, type III) | is equivalent to | 98870 |

313426007 (Kabuki make-up syndrome) | is equivalent to | 2322 |

1260203008 (EVEN-plus syndrome) | is equivalent to | 496751 |

723716009 (Severe generalized recessive dystrophic epidermolysis bullosa) | is equivalent to | 79408 |

716772007 (Roch Leri mesosomatous lipomatosis) | is equivalent to | 529 |

254085009 (Metaphyseal anadysplasia) | is equivalent to | 1040 |

765196004 (Distal myotilinopathy) | is equivalent to | 98911 |

1237511005 (EMILIN-1-related connective tissue disease) | is equivalent to | 485418 |

1172591008 (Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome) | is equivalent to | 496686 |

783549006 (Obesity due to CEP19 deficiency) | is equivalent to | 397615 |

716742001 (Multiple osteochondroma) | is equivalent to | 321 |

765330003 (Autosomal dominant polycystic kidney disease) | is equivalent to | 730 |

715197005 (Fetal parvovirus syndrome) | is equivalent to | 295 |

703532002 (Cap myopathy) | is equivalent to | 171881 |

783766005 (Autosomal recessive secondary polycythemia not associated with VHL (Von Hippel Lindau) gene) | is equivalent to | 247378 |

65110003 (Tropical pyomyositis) | is equivalent to | 764 |

783136007 (Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering) | is equivalent to | 402003 |

28183005 (Fructose-biphosphatase deficiency) | is equivalent to | 348 |

1144933009 (Recurrent infection due to immunoglobulin isotype deficiency) | is equivalent to | 183675 |

698851003 (SOX2 anophthalmia syndrome) | is equivalent to | 77298 |

1187042007 (Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome) | is equivalent to | 505237 |

787412002 (Short chain acyl-coenzyme A dehydrogenase deficiency) | is equivalent to | 26792 |

78495000 (Cleft leaflet of mitral valve) | is equivalent to | 95465 |

765190005 (Fibrothecoma of ovary) | is equivalent to | 314478 |

707435002 (Neuroendocrine cell hyperplasia of infancy) | is equivalent to | 217560 |

234020005 (Vasculitis secondary to drug) | is equivalent to | 251325 |

25792000 (Kearns-Sayre syndrome) | is equivalent to | 480 |

1515008 (Gorham's disease) | is equivalent to | 73 |

764686003 (Autosomal recessive spastic paraplegia type 15) | is equivalent to | 100996 |

733729003 (Primary localized cutaneous amyloidosis) | is equivalent to | 137807 |

711155008 (ALG12-congenital disorder of glycosylation) | is equivalent to | 79324 |

699297004 (Ohdo syndrome, Maat-Kievit-Brunner type) | is equivalent to | 293707 |

720753002 (Cranioosteoarthropathy) | is equivalent to | 1525 |

445448008 (Acute myeloid leukemia with myelodysplasia-related changes) | is equivalent to | 86845 |

52186006 (Dysmorphic sialidosis) | is equivalent to | 87876 |

445105005 (Blastic plasmacytoid dendritic cell neoplasm) | is equivalent to | 86870 |

403492006 (Hypertrophic type discoid lupus erythematosus) | is equivalent to | 90282 |

713401006 (Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria) | is equivalent to | 356978 |

719377004 (Microcephalus with albinism and digital anomaly syndrome) | is equivalent to | 2513 |

64036004 (Reactive perforating collagenosis) | is equivalent to | 79147 |

230422001 (Epilepsy with myoclonic absence) | is equivalent to | 86911 |

721091003 (Dermo-odonto dysplasia) | is equivalent to | 1660 |

128209004 (Chronic inflammatory demyelinating polyradiculoneuropathy) | is equivalent to | 2932 |

14921002 (Aarskog syndrome) | is equivalent to | 915 |

723304001 (Microcephaly, seizure, intellectual disability, heart disease syndrome) | is equivalent to | 2519 |

770625006 (Combined immunodeficiency with faciooculoskeletal anomalies syndrome) | is equivalent to | 221139 |

1237462006 (NDE1-related microhydranencephaly) | is equivalent to | 443162 |

715821000 (Lissencephaly with cerebellar hypoplasia type D) | is equivalent to | 100014 |

773425000 (Autosomal recessive spastic paraplegia type 59) | is equivalent to | 401795 |

1197595004 (Thrombomodulin-related bleeding disorder) | is equivalent to | 436169 |

297195000 (Macrodactyly of hand) | is equivalent to | 295044 |

774208009 (SCALP syndrome) | is equivalent to | 370052 |

772224009 (Warburg micro syndrome) | is equivalent to | 2510 |

1222646006 (Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome) | is equivalent to | 538574 |

1222659003 (RNF13-related severe early-onset epileptic encephalopathy) | is equivalent to | 544503 |

770755007 (Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome) | is equivalent to | 369837 |

787411009 (Monosomy 22 syndrome) | is equivalent to | 96123 |

764860006 (3-methylglutaconic aciduria type 7) | is equivalent to | 445038 |

109969005 (Diffuse non-Hodgkin's lymphoma, large cell (clinical)) | is equivalent to | 544 |

719272007 (Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome) | is equivalent to | 228012 |

725464001 (Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy) | is equivalent to | 329336 |

718219002 (Congenital lactic acidosis Saguenay-Lac-Saint-Jean type) | is equivalent to | 70472 |

1197151003 (Autosomal recessive isolated optic atrophy) | is equivalent to | 98676 |

732927000 (Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome) | is equivalent to | 2437 |

720977000 (ALG8 congenital disorder of glycosylation) | is equivalent to | 79325 |

722456001 (Intellectual disability, developmental delay, contracture syndrome) | is equivalent to | 3454 |

1197747005 (Autosomal semi-dominant severe lipodystrophic laminopathy) | is equivalent to | 280365 |

254956000 (Pituitary adenoma) | is equivalent to | 99408 |

723991007 (Angio-osteohypertrophic syndrome) | is equivalent to | 2346 |

56661000 (Intestinal enteropeptidase deficiency) | is equivalent to | 168601 |

789657008 (ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis) | is equivalent to | 314632 |

1197053003 (Melorheostosis with osteopoikilosis) | is equivalent to | 1879 |

404013002 (Angiomatoid fibrous histiocytoma of skin) | is equivalent to | 569164 |

719017003 (X-linked intellectual disability Armfield type) | is equivalent to | 85276 |

717222003 (Microphthalmia with ankyloblepharon and intellectual disability syndrome) | is equivalent to | 85275 |

239920006 (Adult onset Still's disease) | is equivalent to | 829 |

371423007 (Isosporiasis) | is equivalent to | 472 |

237444008 (Granulomatous mastitis) | is equivalent to | 64722 |

109471001 (Amelogenesis imperfecta, hypocalcification type) | is equivalent to | 100032 |

766721001 (Paternal uniparental disomy of chromosome 7) | is equivalent to | 96192 |

720816004 (Craniosynostosis and intracranial calcification syndrome) | is equivalent to | 52054 |

405752007 (Congenital atrial septal defect) | is equivalent to | 1478 |

708026002 (Chronic pneumonitis of infancy) | is equivalent to | 91359 |

45582004 (Rubinstein-Taybi syndrome) | is equivalent to | 783 |

724001005 (Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome) | is equivalent to | 3085 |

724178000 (Laryngeal abductor paralysis with intellectual disability syndrome) | is equivalent to | 2375 |

784343003 (Autosomal recessive spastic ataxia with leukoencephalopathy) | is equivalent to | 314603 |

783204009 (Ankyloblepharon filiforme adnatum with cleft palate syndrome) | is equivalent to | 1072 |

718097008 (Pulmonary nodular lymphoid hyperplasia) | is equivalent to | 60026 |

403762003 (Odonto-onycho-dermal dysplasia) | is equivalent to | 2721 |

14168008 (Rabies) | is equivalent to | 770 |

1268349000 (Primary endometrioid carcinoma of ovary) | is equivalent to | 454723 |

406619001 (Infection caused by Toxocara) | is equivalent to | 3343 |

441944007 (Oto-onycho-peroneal syndrome) | is equivalent to | 2793 |

768925009 (Mucinous cystadenoma of ovary in childhood) | is equivalent to | 563671 |

1228886008 (9q33.3q34.11 microdeletion syndrome) | is equivalent to | 495818 |

1187277001 (Short stature, brachydactyly, obesity, global developmental delay syndrome) | is equivalent to | 464288 |

1208720000 (Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome) | is equivalent to | 459074 |

49292002 (Familial partial lipodystrophy) | is equivalent to | 98306 |

1231148002 (Linear verrucous nevus syndrome) | is equivalent to | 2611 |

1260181000 (Benign metanephric tumour) | is equivalent to | 464359 |

770435005 (Familial bicuspid aortic valve) | is equivalent to | 402075 |

719814009 (X-linked mendelian susceptibility to mycobacterial disease) | is equivalent to | 319605 |

609529006 (Persistent Blake's pouch cyst) | is equivalent to | 98922 |

253544001 (Congenital left ventricular aneurysm) | is equivalent to | 1055 |

1172586007 (Ocular anomalies, axonal neuropathy, developmental delay syndrome) | is equivalent to | 496790 |

783723003 (Mixed sclerosing bone dystrophy with extra-skeletal manifestation) | is equivalent to | 324364 |

254185007 (Dystrophic epidermolysis bullosa) | is equivalent to | 303 |

716239006 (Tungland Bellman syndrome) | is equivalent to | 3225 |

25065001 (Hemoglobin E disease) | is equivalent to | 2133 |

718634003 (Cutaneous collagenous vasculopathy) | is equivalent to | 280779 |

124258007 (Deficiency of acetyl-CoA acetyltransferase) | is equivalent to | 134 |

718882006 (X-linked severe congenital neutropenia) | is equivalent to | 86788 |

787484007 (Progressive avascular necrosis of lunate) | is equivalent to | 97332 |

726082003 (Immunotactoid glomerulonephritis) | is equivalent to | 97567 |

715415005 (Richards-Rundle syndrome) | is equivalent to | 1399 |

721094006 (Diaphanospondylodysostosis) | is equivalent to | 66637 |

128100009 (Mixed alpha granule and dense body deficiency) | is equivalent to | 734 |

724141003 (Microcephalic primordial dwarfism due to ZNF335 deficiency) | is equivalent to | 329228 |

1187114007 (Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome) | is equivalent to | 476126 |

702425002 (Hand-foot-genital syndrome) | is equivalent to | 2438 |

723552005 (Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency) | is equivalent to | 329942 |

1251488008 (Spondylodysplastic Ehlers-Danlos syndrome) | is equivalent to | 536471 |

403770008 (Cardio-facio-cutaneous syndrome) | is equivalent to | 1340 |

63119004 (Weaver syndrome) | is equivalent to | 3447 |

1156835005 (Autosomal dominant Charcot-Marie-Tooth disease type 2) | is equivalent to | 64746 |

43152001 (Central core disease) | is equivalent to | 597 |

448045004 (Fragile X associated tremor ataxia syndrome) | is equivalent to | 93256 |

699311001 (22q11.2 duplication syndrome) | is equivalent to | 1727 |

1179284005 (Severe combined immunodeficiency due to LAT deficiency) | is equivalent to | 504523 |

1162826002 (Split spinal cord malformation type I) | is equivalent to | 1671 |

235728001 (Autoimmune enteropathy) | is equivalent to | 522037 |

1208338004 (Dysraphism, cleft lip and palate, limb reduction defect syndrome) | is equivalent to | 2476 |

1269347008 (Primary carcinosarcoma of corpus uteri) | is equivalent to | 213610 |

715482004 (Microcephalic primordial dwarfism Toriello type) | is equivalent to | 2643 |

613003 (Fragile X syndrome) | is equivalent to | 908 |

733095006 (Skeletal dysplasia brachydactyly syndrome) | is equivalent to | 2565 |

718095000 (Schisis association syndrome) | is equivalent to | 63862 |

703530005 (Brody myopathy) | is equivalent to | 53347 |

1229979007 (Osteonecrosis due to trauma) | is equivalent to | 399175 |

239802003 (Juvenile psoriatic arthritis) | is equivalent to | 85436 |

445257004 (Nance-Horan syndrome) | is equivalent to | 627 |

234571003 (Warts, hypogammaglobulinemia, infections, and myelokathexis) | is equivalent to | 51636 |

717264003 (Autosomal dominant brachyolmia) | is equivalent to | 93304 |

721883006 (Radioulnar synostosis with developmental delay and hypotonia syndrome) | is equivalent to | 3270 |

1279887007 (Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome) | is equivalent to | 566175 |

1179294000 (Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome) | is equivalent to | 476093 |

722060007 (Oculogastrointestinal muscular dystrophy) | is equivalent to | 1876 |

783767001 (Autosomal recessive hyperinsulinism due to SUR1 deficiency) | is equivalent to | 79643 |

15629411000119106 (Subependymoma of brain) | is equivalent to | 251639 |

716706009 (Female restricted epilepsy with intellectual disability syndrome) | is equivalent to | 101039 |

400140006 (Junctional epidermolysis bullosa gravis of Herlitz) | is equivalent to | 79404 |

702381007 (Horizontal gaze palsy with progressive scoliosis) | is equivalent to | 2744 |

1230308005 (Off-periods in Parkinson disease not responding to oral treatment) | is equivalent to | 391655 |

726021008 (Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency) | is equivalent to | 5 |

274864009 (Glycogen storage disease due to acid maltase deficiency) | is equivalent to | 365 |

773503009 (Epidermolysis bullosa simplex due to exophilin 5 deficiency) | is equivalent to | 412189 |

1268901001 (Primary retinoblastoma of retina) | is equivalent to | 790 |

783058007 (Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency) | is equivalent to | 331176 |

253176002 (Gillespie syndrome) | is equivalent to | 1065 |

724647003 (Diffuse large B-cell lymphoma co-occurrent with chronic inflammation caused by Epstein-Barr virus) | is equivalent to | 300888 |

721887007 (Puerto Rican infant hypotonia syndrome) | is equivalent to | 3010 |

63650001 (Cholera) | is equivalent to | 173 |

128115005 (Pseudo von Willebrand disease) | is equivalent to | 52530 |

783250007 (Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency) | is equivalent to | 217467 |

723830005 (Keratosis follicularis, dwarfism, cerebral atrophy syndrome) | is equivalent to | 2339 |

24354007 (Poisoning by colchicine) | is equivalent to | 31824 |

82385007 (Budd-Chiari syndrome) | is equivalent to | 131 |

723440000 (Nephrogenic syndrome of inappropriate antidiuresis) | is equivalent to | 93606 |

77721001 (Opioid intoxication) | is equivalent to | 35889 |

720746006 (Contracture with ectodermal dysplasia and orofacial cleft syndrome) | is equivalent to | 1484 |

717008005 (Autosomal dominant Charcot-Marie-Tooth disease type 2B) | is equivalent to | 99936 |

238612002 (Generalized pustular psoriasis) | is equivalent to | 247353 |

1237515001 (Alkaline ceramidase 3 deficiency) | is equivalent to | 502444 |

126949007 (Acoustic neuroma) | is equivalent to | 252175 |

733457006 (Ehlers-Danlos and osteogenesis imperfecta syndrome) | is equivalent to | 230857 |

22607003 (Asbestosis) | is equivalent to | 2302 |

771182002 (Thumb deformity, alopecia, pigmentation anomaly syndrome) | is equivalent to | 2251 |

57119000 (Hyperammonemia, type III) | is equivalent to | 927 |

1230291009 (Primary biliary cholangitis and/or primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome) | is equivalent to | 562639 |

77817004 (Neu-Laxova syndrome) | is equivalent to | 2671 |

716193004 (Short stature with valvular heart disease and characteristic facies syndrome) | is equivalent to | 2868 |

719659003 (2q32q33 microdeletion syndrome) | is equivalent to | 251019 |

733082001 (Early-onset Lafora body disease) | is equivalent to | 324290 |

766753005 (Nijmegen breakage syndrome-like disorder) | is equivalent to | 240760 |

92818009 (Chronic myeloid leukemia) | is equivalent to | 521 |

57218003 (Cholesterol ester storage disease) | is equivalent to | 75234 |

763830009 (Oculomaxillofacial dysostosis) | is equivalent to | 1794 |

763457000 (X-linked Charcot-Marie-Tooth disease type 2) | is equivalent to | 101076 |

703525006 (Anhidrotic ectodermal dysplasia with immune deficiency) | is equivalent to | 98813 |

733468006 (Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome) | is equivalent to | 166277 |

5300004 (Hemoglobin Bart's hydrops syndrome) | is equivalent to | 163596 |

718196002 (Beta thalassemia X-linked thrombocytopenia syndrome) | is equivalent to | 231393 |

304603007 (Variant Creutzfeldt-Jakob disease) | is equivalent to | 576370 |

702364003 (Chylomicron retention disease) | is equivalent to | 71 |

118600007 (Malignant lymphoma) | is equivalent to | 223735 |

767263007 (22q11.2 deletion syndrome) | is equivalent to | 567 |

276508000 (Hydrops fetalis) | is equivalent to | 1041 |

765331004 (Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis) | is equivalent to | 88924 |

716334004 (Urban Rogers Meyer syndrome) | is equivalent to | 3409 |

51952004 (Spondyloepiphyseal dysplasia tarda) | is equivalent to | 93284 |

230314007 (Sandifer syndrome) | is equivalent to | 71272 |

19754005 (Alopecia totalis) | is equivalent to | 700 |

51485001 (Congenital coloboma of iris) | is equivalent to | 98944 |

720983002 (Amaurosis hypertrichosis syndrome) | is equivalent to | 1021 |

723499000 (Ring dermoid of cornea) | is equivalent to | 91481 |

707510005 (Secondary pulmonary alveolar proteinosis) | is equivalent to | 420259 |

14637005 (Late-infantile neuronal ceroid lipofuscinosis) | is equivalent to | 168491 |

723076008 (Primary myxofibrosarcoma) | is equivalent to | 79105 |

702358005 (Persistent Müllerian duct syndrome) | is equivalent to | 2856 |

1186652002 (Inflammatory bowel disease, recurrent sinopulmonary infection syndrome) | is equivalent to | 529980 |

721877008 (Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency) | is equivalent to | 319558 |

449824004 (Marden Walker syndrome) | is equivalent to | 2461 |

1217379007 (NKX6-2-related autosomal recessive hypomyelinating leukodystrophy) | is equivalent to | 527497 |

1230002004 (Liver adenomatosis) | is equivalent to | 566841 |

725591002 (Congenital enterocyte heparan sulfate deficiency) | is equivalent to | 103910 |

702437000 (Amish lethal microcephaly) | is equivalent to | 99742 |

716660007 (Congenital Epstein-Barr virus infection) | is equivalent to | 70596 |

254054000 (Boomerang dysplasia) | is equivalent to | 1263 |

721978002 (Lymphedema, atrial septal defect, facial changes syndrome) | is equivalent to | 86915 |

765485000 (Ring chromosome 2 syndrome) | is equivalent to | 96171 |

715242008 (Ulna metaphyseal dysplasia syndrome) | is equivalent to | 1837 |

733094005 (Dandy-Walker malformation with postaxial polydactyly syndrome) | is equivalent to | 1566 |

766708008 (Isochromosomy Yp) | is equivalent to | 98797 |

61758007 (Exstrophy of bladder sequence) | is equivalent to | 93930 |

723720008 (SERKAL syndrome) | is equivalent to | 139466 |

253326008 (Coronary sinus orifice atresia) | is equivalent to | 99118 |

78317008 (XXXY syndrome) | is equivalent to | 96263 |

716090004 (Haspeslagh Fryns Muelenaere syndrome) | is equivalent to | 2994 |

715391004 (Blepharophimosis epicanthus inversus ptosis syndrome) | is equivalent to | 126 |

783166000 (Distal anoctaminopathy) | is equivalent to | 399096 |

81211007 (Primary lateral sclerosis) | is equivalent to | 35689 |

400142003 (Epidermolytic epidermal nevus) | is equivalent to | 497737 |

83579008 (Mixed gonadal dysgenesis) | is equivalent to | 1772 |

719268008 (Progressive non-infectious anterior vertebral fusion) | is equivalent to | 2062 |

719254001 (Spinocerebellar ataxia type 32) | is equivalent to | 276183 |

722391005 (Congenital lethal erythroderma) | is equivalent to | 1954 |

1208482007 (Distal arthrogryposis type 10) | is equivalent to | 251515 |

720408003 (Acrofrontofacionasal dysostosis) | is equivalent to | 1784 |

770436006 (Familial juvenile hypertrophy of the breast) | is equivalent to | 180176 |

720465002 (Adult-onset autosomal recessive sideroblastic anemia) | is equivalent to | 255132 |

230591002 (Motor neuropathy with multiple conduction block) | is equivalent to | 641 |

724276006 (X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome) | is equivalent to | 37042 |

1228844002 (1p35.2 microdeletion syndrome) | is equivalent to | 456298 |

57451009 (Congenital tracheobronchomegaly) | is equivalent to | 3347 |

50581000 (Goodpasture's syndrome) | is equivalent to | 375 |

763280005 (Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome) | is equivalent to | 319678 |

1230310007 (FTH1-related iron overload) | is equivalent to | 247790 |

1255335006 (X-linked intellectual disability, short stature, overweight syndrome) | is equivalent to | 457240 |

724067006 (Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome) | is equivalent to | 65288 |

732958004 (Spastic paraplegia with precocious puberty syndrome) | is equivalent to | 2826 |

1172602000 (Childhood-onset benign chorea with striatal involvement) | is equivalent to | 494541 |

1148758003 (Congenital microcephaly) | is equivalent to | 199642 |

400179000 (Precocious puberty) | is equivalent to | 95708 |

789063000 (Primary hyperaldosteronism, seizures, neurological abnormalities syndrome) | is equivalent to | 369929 |

82500001 (Wolman's disease) | is equivalent to | 75233 |

771267003 (Congenital muscular dystrophy with integrin alpha-7 deficiency) | is equivalent to | 34520 |

763067000 (Autosomal dominant congenital benign spinal muscular atrophy) | is equivalent to | 1216 |

719161008 (Syndromic X-linked intellectual disability due to JARID1C mutation) | is equivalent to | 85279 |

709413001 (Isolated hyperchlorhidrosis) | is equivalent to | 542657 |

43876007 (Situs inversus viscerum) | is equivalent to | 101063 |

722436002 (Dystrophic epidermolysis bullosa nails only) | is equivalent to | 158676 |

711151004 (Hypomagnesemia with secondary hypocalcemia) | is equivalent to | 30924 |

92100009 (Benign neoplasm of fallopian tube) | is equivalent to | 180237 |

237997005 (Very long chain acyl-CoA dehydrogenase deficiency) | is equivalent to | 26793 |

81771002 (Opitz-Frias syndrome) | is equivalent to | 2745 |

768555009 (5q31.3 microdeletion syndrome) | is equivalent to | 314655 |

719021005 (DK phocomelia syndrome) | is equivalent to | 3439 |

782758009 (Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome) | is equivalent to | 369979 |

38023001 (Locked in syndrome) | is equivalent to | 2406 |

711407000 (Thrombocytopathy, asplenia and miosis) | is equivalent to | 3204 |

1237344003 (Symptomatic form of fragile X syndrome in female carrier) | is equivalent to | 449291 |

56717001 (Tuberculosis) | is equivalent to | 3389 |

733467001 (Hereditary anetoderma) | is equivalent to | 228277 |

771513008 (Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency) | is equivalent to | 352563 |

1963002 (Paroxysmal nocturnal hemoglobinuria) | is equivalent to | 447 |

723407009 (Muscular dystrophy Selcen type) | is equivalent to | 199340 |

1208939001 (Progressive myoclonic epilepsy type 7) | is equivalent to | 435438 |

91521000119104 (Narcolepsy without cataplexy) | is equivalent to | 83465 |

765090007 (Poisoning caused by monochloroacetic acid) | is equivalent to | 90069 |

26132002 (5-Oxoprolinase deficiency) | is equivalent to | 33572 |

1172593006 (Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome) | is equivalent to | 496641 |

716180009 (Boder syndrome) | is equivalent to | 2724 |

230496009 (Non-24 hour sleep-wake cycle) | is equivalent to | 73267 |

724284005 (Hypertelorism Teebi type) | is equivalent to | 1519 |

191189009 (Beta thalassemia intermedia) | is equivalent to | 231222 |

239055005 (Hereditary clubbing) | is equivalent to | 217059 |

722059002 (Oculocutaneous albinism type 7) | is equivalent to | 352745 |

89420002 (Pulmonary veno-occlusive disease) | is equivalent to | 31837 |

403833009 (TNF receptor-associated periodic fever syndrome (TRAPS)) | is equivalent to | 32960 |

720430002 (Acrofacial dysostosis Rodriguez type) | is equivalent to | 1788 |

768946000 (Stevens-Johnson syndrome, toxic epidermal necrolysis spectrum) | is equivalent to | 95455 |

56090007 (Pseudohypoparathyroidism type I B) | is equivalent to | 94089 |

1269049001 (Primary giant cell glioblastoma of central nervous system) | is equivalent to | 251579 |

85020001 (Cystinuria) | is equivalent to | 214 |

21086008 (Cockayne syndrome) | is equivalent to | 191 |

254186008 (Localized dystrophic epidermolysis bullosa) | is equivalent to | 595356 |

398523009 (Foodborne botulism) | is equivalent to | 228371 |

95467005 (Congenital tracheomalacia) | is equivalent to | 95430 |

721297008 (Galloway Mowat syndrome) | is equivalent to | 2065 |

118605002 (Hodgkin lymphoma, nodular lymphocyte predominance (clinical)) | is equivalent to | 86893 |

718910006 (X-linked intellectual disability Stocco Dos Santos type) | is equivalent to | 85288 |

716174001 (Oculocerebral hypopigmentation syndrome of Preus type) | is equivalent to | 2720 |

58256000 (Dihydropteridine reductase deficiency) | is equivalent to | 226 |

783246000 (Megalocornea, spherophakia, secondary glaucoma syndrome) | is equivalent to | 238763 |

720757001 (Craniofrontonasal dysplasia with Poland anomaly syndrome) | is equivalent to | 1521 |

791000124107 (2-methyl-3-hydroxybutyric aciduria) | is equivalent to | 391417 |

782910009 (Seborrhea-like dermatitis with psoriasiform elements) | is equivalent to | 168606 |

783551005 (Ichthyosis, short stature, brachydactyly, microspherophakia syndrome) | is equivalent to | 363992 |

721017000 (Oliver syndrome) | is equivalent to | 2920 |

134209002 (Prolactinoma) | is equivalent to | 2965 |

48543002 (Nevus of Ito) | is equivalent to | 263432 |

63711009 (Brachydactyly syndrome type E) | is equivalent to | 93387 |

770679002 (Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome) | is equivalent to | 2928 |

770793002 (5p13 microduplication syndrome) | is equivalent to | 329802 |

29159009 (Familial dysautonomia) | is equivalent to | 1764 |

773549000 (Maternal riboflavin deficiency) | is equivalent to | 411712 |

698253007 (Ultraviolet sensitive syndrome) | is equivalent to | 178338 |

717895004 (Hypoparathyroidism due to impaired PTH secretion) | is equivalent to | 140286 |

719302009 (Spinocerebellar ataxia type 5) | is equivalent to | 98766 |

732248005 (Coxoauricular syndrome) | is equivalent to | 1508 |

1237339005 (Severe primary trimethylaminuria) | is equivalent to | 468726 |

787407003 (Muenke syndrome) | is equivalent to | 53271 |

1197756002 (Proximal myopathy with focal depletion of mitochondria) | is equivalent to | 521305 |

719276005 (Primary dystonia type 4) | is equivalent to | 98805 |

771238004 (Spinal atrophy, ophthalmoplegia, pyramidal syndrome) | is equivalent to | 1217 |

719136005 (X-linked intellectual disability with cerebellar hypoplasia syndrome) | is equivalent to | 137831 |

118607005 (Lymphocyte-rich classical Hodgkin lymphoma) | is equivalent to | 98845 |

278098005 (Crandall's syndrome) | is equivalent to | 202 |

717964007 (Juvenile primary lateral sclerosis) | is equivalent to | 247604 |

1269234000 (Predisposition to severe viral infection due to IRF7 deficiency) | is equivalent to | 574918 |

717742006 (Primary renal dysplasia) | is equivalent to | 93108 |

716387004 (2q31.1 microdeletion syndrome) | is equivalent to | 251014 |

765755006 (Axial mesodermal dysplasia spectrum) | is equivalent to | 1834 |

763684005 (Craniosynostosis Herrmann Opitz type) | is equivalent to | 2145 |

1231175009 (Congenital anomaly of fourth branchial cleft) | is equivalent to | 141037 |

766821006 (Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome) | is equivalent to | 93358 |

16872008 (Severe hereditary factor VIII deficiency disease) | is equivalent to | 169802 |

274902006 (Combined hepatocellular carcinoma and cholangiocarcinoma) | is equivalent to | 529852 |

129622008 (Nemaline myopathy, late onset type) | is equivalent to | 171442 |

763890006 (Short stature with delayed bone age due to thyroid hormone metabolism deficiency) | is equivalent to | 171706 |

724092009 (Nephrosis, deafness, urinary tract, digital malformation syndrome) | is equivalent to | 2669 |

770593004 (Refractory celiac disease) | is equivalent to | 398063 |

716661006 (Childhood neoplasm of heart) | is equivalent to | 875 |

48113006 (Omsk hemorrhagic fever) | is equivalent to | 319266 |

719409004 (Lethal Larsen-like syndrome) | is equivalent to | 2371 |

778009001 (Blepharophimosis, intellectual disability syndrome, Verloes type) | is equivalent to | 293725 |

773986009 (NEVADA syndrome) | is equivalent to | 370059 |

1172696009 (Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome) | is equivalent to | 480898 |

735332000 (Primary cutaneous diffuse large cell B-cell lymphoma of lower extremity) | is equivalent to | 178544 |

1231149005 (AH amyloidosis) | is equivalent to | 442582 |

1779005 (Mohr syndrome) | is equivalent to | 2751 |

1187616008 (Deficiency of galactose mutarotase) | is equivalent to | 570422 |

231903005 (Superior limbic keratoconjunctivitis) | is equivalent to | 88633 |

419671004 (Catecholaminergic polymorphic ventricular tachycardia) | is equivalent to | 3286 |

82837002 (Kenny syndrome) | is equivalent to | 2333 |

774206008 (Fatal post-viral neurodegenerative disorder) | is equivalent to | 391343 |

238003000 (Carnitine acylcarnitine translocase deficiency) | is equivalent to | 159 |

66760008 (Optic neuritis) | is equivalent to | 499096 |

725139005 (Spastic paraplegia, optic atrophy, neuropathy syndrome) | is equivalent to | 320406 |

785724007 (Pyoderma gangrenosum, acne, suppurative hidradenitis syndrome) | is equivalent to | 289478 |

1222669009 (Congenital primary lymphedema of Gordon) | is equivalent to | 569821 |

702350003 (Spondyloepimetaphyseal dysplasia, Strudwick type) | is equivalent to | 93346 |

404633004 (Cogan-Reese syndrome) | is equivalent to | 98980 |

778010006 (Skin fragility, wooly hair, palmoplantar keratoderma syndrome) | is equivalent to | 293165 |

231934009 (Pre-descemet's corneal dystrophy) | is equivalent to | 293462 |

205082007 (Congenital vertical talus) | is equivalent to | 178382 |

763370008 (X-linked spastic paraplegia type 34) | is equivalent to | 171607 |

763215008 (Congenital ankylosis of temporomandibular joint) | is equivalent to | 210576 |

70410008 (Acrocephalosyndactyly type V) | is equivalent to | 710 |

782675008 (Distal myopathy with anterior tibial onset) | is equivalent to | 178400 |

719687007 (Gingival fibromatosis with facial dysmorphism syndrome) | is equivalent to | 2025 |

80651009 (Aicardi's syndrome) | is equivalent to | 50 |

1268501005 (Primary tubulocystic renal cell carcinoma) | is equivalent to | 319325 |

778025006 (Atypical hypotonia cystinuria syndrome) | is equivalent to | 238523 |

54411001 (Peutz-Jeghers syndrome) | is equivalent to | 2869 |

86635005 (Kasabach-Merritt syndrome) | is equivalent to | 2330 |

1162799008 (Hereditary leiomyomatosis and renal cell carcinoma) | is equivalent to | 523 |

720416007 (Acrocapitofemoral dysplasia) | is equivalent to | 63446 |

16424000 (Glucagonoma syndrome) | is equivalent to | 97280 |

773732005 (Interstitial granulomatous dermatitis with arthritis) | is equivalent to | 79099 |

238862009 (Juvenile aponeurotic fibroma) | is equivalent to | 199260 |

12579009 (Familial Mediterranean fever) | is equivalent to | 342 |

783174004 (Congenital muscular dystrophy with intellectual disability) | is equivalent to | 370968 |

763068005 (Autosomal dominant spastic paraplegia type 31) | is equivalent to | 101011 |

1268633007 (Primary squamous cell carcinoma of rectum) | is equivalent to | 424002 |

61462000 (Malaria) | is equivalent to | 673 |

17025000 (Vascular Ehlers-Danlos syndrome) | is equivalent to | 286 |

30242009 (Scarlet fever) | is equivalent to | 36235 |

763770005 (Familial cortical myoclonus) | is equivalent to | 319189 |

40527005 (Idiopathic pulmonary hemosiderosis) | is equivalent to | 99931 |

715777007 (Primary dystonia type 2) | is equivalent to | 99657 |

451030007 (Urachal sinus) | is equivalent to | 431344 |

771186004 (Poikiloderma, alopecia, retrognathism, cleft palate syndrome) | is equivalent to | 2825 |

1264458000 (Acute undifferentiated leukaemia) | is equivalent to | 98835 |

770788000 (Tall stature, scoliosis, macrodactyly of great toe syndrome) | is equivalent to | 329191 |

766750008 (Multiple epiphyseal dysplasia with miniepiphyses) | is equivalent to | 166032 |

1231749004 (Adult-onset overlap myositis) | is equivalent to | 206572 |

239062001 (Erythrokeratoderma en cocardes) | is equivalent to | 315 |

770909004 (Metaphyseal chondrodysplasia Kaitila type) | is equivalent to | 166038 |

726607007 (Autosomal recessive spastic paraplegia type 26) | is equivalent to | 101006 |

1269045007 (Primary mixed germ cell tumor) | is equivalent to | 180234 |

783244002 (Acute pure sensory neuropathy) | is equivalent to | 231450 |

784352007 (X-linked scapuloperoneal muscular dystrophy) | is equivalent to | 431272 |

77608001 (Baller-Gerold syndrome) | is equivalent to | 1225 |

723544007 (Trichodysplasia spinulosa caused by Polyomavirus) | is equivalent to | 228379 |

702375004 (Familial isolated pituitary adenoma) | is equivalent to | 314777 |

717360009 (Pili bifurcati) | is equivalent to | 720 |

1231151009 (Osteonecrosis of jaw) | is equivalent to | 399293 |

417192005 (St. Louis encephalitis virus infection) | is equivalent to | 83484 |

720498007 (Aphalangy and syndactyly with microcephaly syndrome) | is equivalent to | 1113 |

709412006 (Congenital disorder of glycosylation type 1c) | is equivalent to | 79320 |

1186713004 (Growth delay, intellectual disability, hepatopathy syndrome) | is equivalent to | 541423 |

89859004 (Monostotic fibrous dysplasia) | is equivalent to | 93277 |

702313004 (Tetra-amelia syndrome) | is equivalent to | 294971 |

722429003 (Distal limb deficiency with micrognathia syndrome) | is equivalent to | 1307 |

446079007 (Mal de debarquement syndrome) | is equivalent to | 210272 |

1372004 (Uterus unicornis) | is equivalent to | 180074 |

721008000 (Hall Riggs syndrome) | is equivalent to | 2107 |

718177001 (Autosomal recessive limb girdle muscular dystrophy type 2F) | is equivalent to | 219 |

58557008 (Spina bifida aperta) | is equivalent to | 268369 |

64716005 (Fucosidosis) | is equivalent to | 349 |

715867000 (Pseudoaminopterin syndrome) | is equivalent to | 221120 |

733200004 (Superficial siderosis of central nervous system) | is equivalent to | 247245 |

703531009 (Brooke-Spiegler syndrome) | is equivalent to | 79493 |

237292005 (Placental insufficiency) | is equivalent to | 439167 |

73284007 (Marshall-Smith syndrome) | is equivalent to | 561 |

253185002 (Chiari malformation type I) | is equivalent to | 268882 |

1197594000 (Periodic fever, infantile enterocolitis, autoinflammatory syndrome) | is equivalent to | 436166 |

722675000 (Laryngo-onycho-cutaneous syndrome) | is equivalent to | 2407 |

45142002 (Congenital pulmonary lymphangiectasis) | is equivalent to | 2414 |

403982005 (Retiform hemangioendothelioma) | is equivalent to | 458763 |

719042007 (Uveal coloboma with cleft lip and palate and intellectual disability syndrome) | is equivalent to | 1473 |

718755009 (Episodic ataxia type 3) | is equivalent to | 79135 |

770786001 (Hereditary inclusion body myopathy type 4) | is equivalent to | 324381 |

41283003 (Cerebro-oculo-facio-skeletal syndrome) | is equivalent to | 1466 |

1197591008 (Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome) | is equivalent to | 436141 |

82562007 (Osteochondritis dissecans) | is equivalent to | 2764 |

1236804009 (Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome) | is equivalent to | 504476 |

763833006 (Oro-facial digital syndrome type 1) | is equivalent to | 2750 |

733521003 (Distal 16p11.2 microdeletion syndrome) | is equivalent to | 261222 |

838355002 (Acute myeloid leukemia with CBFB::MYH11 fusion) | is equivalent to | 98829 |

1230018005 (Corticobasal syndrome) | is equivalent to | 454887 |

253650001 (Aorta to right ventricle tunnel) | is equivalent to | 99070 |

715532007 (Weismann Netter syndrome) | is equivalent to | 3344 |

733110004 (Van den Bosch syndrome) | is equivalent to | 3417 |

1234908005 (Congenital azygos continuation of inferior vena cava) | is equivalent to | 99121 |

111385000 (Tay-Sachs disease) | is equivalent to | 845 |

719449007 (Deficiency of dimethylglycine dehydrogenase) | is equivalent to | 243343 |

724098008 (Monosomy 9q22.3 syndrome) | is equivalent to | 77301 |

765488003 (Ring chromosome 6 syndrome) | is equivalent to | 1448 |

782912001 (Spondylometaphyseal dysplasia A4 type) | is equivalent to | 168555 |

718122005 (Piebaldism) | is equivalent to | 2884 |

371015003 (Congenital absence of both testes) | is equivalent to | 325124 |

773584001 (Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome) | is equivalent to | 324416 |

359631009 (Acute myeloid leukemia, minimal differentiation, FAB M0) | is equivalent to | 98832 |

402773000 (Punctate palmoplantar keratoderma) | is equivalent to | 307967 |

235908005 (Glycogen phosphorylase kinase deficiency) | is equivalent to | 264580 |

764440006 (19p13.13 microdeletion syndrome) | is equivalent to | 357001 |

719297006 (Persistent placoid maculopathy) | is equivalent to | 97341 |

715655000 (Transthyretin related familial amyloid cardiomyopathy) | is equivalent to | 85451 |

8301004 (Caudal regression syndrome) | is equivalent to | 3027 |

239088003 (Dermatopathia pigmentosa reticularis) | is equivalent to | 86920 |

726106004 (X-linked diffuse leiomyomatosis with Alport syndrome) | is equivalent to | 1018 |

783158009 (Infundibulo neurohypophysitis) | is equivalent to | 238305 |

34194007 (HNSHA due to pyrimidine-5'-nucleotidase deficiency) | is equivalent to | 35120 |

239070006 (Progressive palmoplantar keratoderma of Greither) | is equivalent to | 495 |

725166005 (Autosomal recessive omodysplasia) | is equivalent to | 93329 |

238829001 (Primary anetoderma) | is equivalent to | 228272 |

200946001 (Staphylococcal scalded skin syndrome) | is equivalent to | 36236 |

782755007 (Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome) | is equivalent to | 391408 |

254114000 (Singleton-Merten syndrome) | is equivalent to | 85191 |

732930007 (Autosomal recessive limb girdle muscular dystrophy type 2T) | is equivalent to | 363623 |

297256008 (Glycerol kinase deficiency - isolated) | is equivalent to | 408 |

254234005 (Marie Unna syndrome) | is equivalent to | 444 |

772828001 (Influenza caused by Influenza A virus subtype H5N1) | is equivalent to | 454836 |

733028000 (Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome) | is equivalent to | 3151 |

783004003 (Thin ribs, tubular bones, dysmorphism syndrome) | is equivalent to | 1506 |

52616002 (Freeman-Sheldon syndrome) | is equivalent to | 2053 |

238853007 (Superficial fibromatosis) | is equivalent to | 199257 |

720522001 (Autosomal recessive limb girdle muscular dystrophy type 2G) | is equivalent to | 34514 |

733491005 (Carney complex) | is equivalent to | 1359 |

1187529000 (PEX10 deficiency) | is equivalent to | 247815 |

765092004 (Spheroid body myopathy) | is equivalent to | 268129 |

719471002 (Cleidorhizomelic syndrome) | is equivalent to | 1453 |

718559000 (Acromesomelic dysplasia Maroteaux type) | is equivalent to | 40 |

193225000 (Hereditary progressive muscular dystrophy) | is equivalent to | 206644 |

421182009 (Episodic ataxia type 1) | is equivalent to | 37612 |

284811000119102 (Aneurysm of extracranial portion of internal carotid artery) | is equivalent to | 494424 |

236302005 (Acute interstitial pneumonia) | is equivalent to | 79126 |

1263450003 (Malignant non-dysgerminomatous germ cell tumor of ovary) | is equivalent to | 206538 |

1217208003 (L-ferritin deficiency) | is equivalent to | 440731 |

1187174002 (CCDC115 congenital disorder of glycosylation) | is equivalent to | 468684 |

716005004 (Fetal diethylstilbestrol syndrome) | is equivalent to | 1916 |

722114007 (Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome) | is equivalent to | 75325 |

1279886003 (Calpain-3-related limb girdle muscular dystrophy D4) | is equivalent to | 565909 |

111388003 (Cutis laxa, autosomal dominant) | is equivalent to | 90348 |

18756002 (Juvenile GM1 gangliosidosis) | is equivalent to | 79256 |

88714009 (Transient hypogammaglobulinemia of infancy) | is equivalent to | 169139 |

1268960003 (Primary astroblastoma of central nervous system) | is equivalent to | 251679 |

1237417007 (CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation) | is equivalent to | 448010 |

1208614008 (Autosomal dominant deafness with onychodystrophy syndrome) | is equivalent to | 79499 |

716335003 (Worster Drought syndrome) | is equivalent to | 3465 |

205480005 (Dysplasia epiphysealis hemimelica) | is equivalent to | 1822 |

766238001 (Maternal uniparental disomy of chromosome 4) | is equivalent to | 96180 |

787172004 (Childhood-onset autosomal recessive myopathy with external ophthalmoplegia) | is equivalent to | 363677 |

717055000 (Frontal fibrosing alopecia) | is equivalent to | 254492 |

1260182007 (Phyllodes tumour of prostate) | is equivalent to | 498228 |

702349003 (Actin accumulation myopathy) | is equivalent to | 98904 |

13280000 (Femoral hypoplasia - unusual facies syndrome) | is equivalent to | 1988 |

725407006 (Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type) | is equivalent to | 89842 |

718765003 (Spondyloepiphyseal dysplasia Cantu type) | is equivalent to | 163654 |

1268715005 (Primary malignant fibrous histiocytoma) | is equivalent to | 2023 |

7573000 (Classical phenylketonuria) | is equivalent to | 79254 |

110997000 (Fahr's syndrome) | is equivalent to | 1980 |

1251452003 (4q25 proximal deletion syndrome) | is equivalent to | 502437 |

62803002 (Frontometaphyseal dysplasia) | is equivalent to | 1826 |

371199008 (Congenital absence of hand) | is equivalent to | 294983 |

763834000 (Oro-facial digital syndrome type 12) | is equivalent to | 141327 |

230557001 (Hereditary dysautonomia with motor neuropathy) | is equivalent to | 2400 |

716378008 (Combined immunodeficiency due to ZAP70 deficiency) | is equivalent to | 911 |

733522005 (Megalocornea with intellectual disability syndrome) | is equivalent to | 2479 |

1229940001 (Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to IL-7Ralpha deficiency) | is equivalent to | 169154 |

721838005 (Familial hypertryptophanemia) | is equivalent to | 2224 |

722105002 (Oro-facial digital syndrome type 5) | is equivalent to | 2919 |

718909001 (X-linked intellectual disability Stevenson type) | is equivalent to | 85325 |

404133000 (Subcutaneous panniculitis-like T-cell lymphoma) | is equivalent to | 86884 |

771148008 (X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome) | is equivalent to | 431140 |

1186656004 (Congenital deficiency of cochlear nerve) | is equivalent to | 502318 |

717761005 (Choroideremia with deafness and obesity syndrome) | is equivalent to | 1435 |

35387008 (Congenital aphakia) | is equivalent to | 83461 |

277602003 (Acute megakaryoblastic leukemia) | is equivalent to | 518 |

41788008 (Hereditary factor IX deficiency disease) | is equivalent to | 98879 |

84121007 (Iminoglycinuria) | is equivalent to | 42062 |

721882001 (Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome) | is equivalent to | 71289 |

31681005 (Trigeminal neuralgia) | is equivalent to | 221091 |

237941007 (Gamma-aminobutyric acid transaminase deficiency) | is equivalent to | 2066 |

773577009 (Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome) | is equivalent to | 352662 |

726722009 (Hemifacial microsomia with radial defect syndrome) | is equivalent to | 2549 |

239139000 (Familial cutaneous collagenoma) | is equivalent to | 53296 |

773749003 (Genitopalatocardiac syndrome) | is equivalent to | 2075 |

1268350000 (Primary carcinoma of vagina) | is equivalent to | 180247 |

766707003 (Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutation) | is equivalent to | 319462 |

1204418008 (Congenital trochlear nerve palsy) | is equivalent to | 98686 |

718602007 (Hereditary arterial and articular multiple calcification syndrome) | is equivalent to | 289601 |

124178006 (Deficiency of dihydrofolate reductase) | is equivalent to | 319651 |

37702000 (Hereditary acrodermatitis enteropathica) | is equivalent to | 37 |

719275009 (Primary hypergonadotropic hypogonadism and partial alopecia syndrome) | is equivalent to | 2232 |

763534009 (Hot water reflex epilepsy) | is equivalent to | 166412 |

15892005 (Mucopolysaccharidosis, MPS-III-D) | is equivalent to | 79272 |

783719006 (Obesity due to SIM1 deficiency) | is equivalent to | 369873 |

783142006 (Pancytopenia due to IKZF1 mutations) | is equivalent to | 317473 |

109716001 (Osteoradionecrosis of mandible) | is equivalent to | 521127 |

721880009 (Congenital microgastria with limb reduction defect syndrome) | is equivalent to | 2538 |

725157006 (Acquired purpura fulminans) | is equivalent to | 49566 |

1260180004 (Growing teratoma syndrome) | is equivalent to | 314613 |

277474005 (B-cell chronic lymphocytic leukaemia variant) | is equivalent to | 67038 |

763129001 (Dermoid cyst of neck) | is equivalent to | 141046 |

1268700009 (Primary spermatocytic seminoma of testis) | is equivalent to | 99865 |

238080004 (Hyperalphalipoproteinemia) | is equivalent to | 181428 |

397012002 (Cutaneous mastocytosis) | is equivalent to | 66646 |

205788004 (Fetal alcohol syndrome) | is equivalent to | 1915 |

238091006 (Lecithin cholesterol acyltransferase deficiency) | is equivalent to | 650 |

783060009 (Autosomal recessive cerebellar ataxia, psychomotor delay syndrome) | is equivalent to | 284271 |

52165006 (Niemann-Pick disease, type A) | is equivalent to | 77292 |

778063003 (Cryptogenic late-onset epileptic spasms) | is equivalent to | 163708 |

720511000 (Arrhinia with choanal atresia and microphthalmia syndrome) | is equivalent to | 1135 |

78675000 (Stickler syndrome) | is equivalent to | 828 |

40291001 (Mietens syndrome) | is equivalent to | 2557 |

236466005 (Congenital Fanconi syndrome) | is equivalent to | 3337 |

82458004 (Congenital stenosis of mitral valve) | is equivalent to | 99057 |

715403006 (Adult heart tumor) | is equivalent to | 874 |

205824006 (Noonan's syndrome) | is equivalent to | 648 |

782739000 (Male emopamil-binding protein disorder with neurological defect) | is equivalent to | 401973 |

1197057002 (Hallermann Streiff like syndrome) | is equivalent to | 2109 |

1172631001 (Autosomal recessive spastic paraplegia type 76) | is equivalent to | 488594 |

1251450006 (16p12.1p12.3 triplication syndrome) | is equivalent to | 485405 |

254230001 (Uncombable hair syndrome) | is equivalent to | 1410 |

784393004 (Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies) | is equivalent to | 306431 |

716238003 (Chitty Hall Baraitser syndrome) | is equivalent to | 3218 |

770561007 (Lower limb malformation hypospadias syndrome) | is equivalent to | 2487 |

725096002 (Cryptomicrotia brachydactyly syndrome) | is equivalent to | 1547 |

41656005 (Leri's pleonosteosis syndrome) | is equivalent to | 2900 |

238051008 (Sialuria) | is equivalent to | 3166 |

724147004 (8q13 microdeletion syndrome) | is equivalent to | 2496 |

783062001 (Progressive myoclonic epilepsy type 6) | is equivalent to | 280620 |

782934004 (Bleeding diathesis due to collagen receptor defect) | is equivalent to | 73271 |

1231153007 (Primary failure of tooth eruption) | is equivalent to | 412206 |

720855003 (Cerebrooculonasal syndrome) | is equivalent to | 66625 |

1177175008 (Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome) | is equivalent to | 508533 |

717632002 (X-linked lissencephaly with abnormal genitalia syndrome) | is equivalent to | 452 |

723496007 (Natural killer cell enteropathy) | is equivalent to | 263665 |

18504008 (Toxic shock syndrome) | is equivalent to | 36234 |

1187643003 (Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome) | is equivalent to | 466794 |

25472008 (Sickle cell-hemoglobin D disease) | is equivalent to | 251370 |

716708005 (FRAXF syndrome) | is equivalent to | 100974 |

35850006 (Infantile uterus) | is equivalent to | 180139 |

782690007 (Gemignani syndrome) | is equivalent to | 2074 |

60258001 (Macular corneal dystrophy) | is equivalent to | 98969 |

773497001 (Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome) | is equivalent to | 401959 |

23063005 (Congenital atresia of mitral valve) | is equivalent to | 1205 |

717973004 (3q29 microduplication) | is equivalent to | 251038 |

718556007 (3C syndrome) | is equivalent to | 7 |

203927003 (Iniencephaly - closed) | is equivalent to | 268366 |

111496009 (Syringomyelia) | is equivalent to | 3280 |

783155007 (Malignant epithelial neoplasm of salivary gland) | is equivalent to | 276145 |

1259242002 (Hereditary von Willebrand disease) | is equivalent to | 903 |

404164003 (Necrobiotic xanthogranuloma) | is equivalent to | 158011 |

778044004 (Primary non-essential cutis verticis gyrata) | is equivalent to | 357225 |

1268537000 (Primary adenoid cystic carcinoma of cervix uteri) | is equivalent to | 213823 |

763860004 (Otofaciocervical syndrome) | is equivalent to | 2792 |

734017008 (Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome) | is equivalent to | 1812 |

20927009 (Dengue hemorrhagic fever) | is equivalent to | 99828 |

267874003 (Scleroderma) | is equivalent to | 801 |

720468000 (Aniridia and intellectual disability syndrome) | is equivalent to | 1068 |

253148005 (Miller Dieker syndrome) | is equivalent to | 531 |

35742006 (Congenital syphilis) | is equivalent to | 499009 |

254786000 (Tufted angioma of skin) | is equivalent to | 1063 |

719162001 (Radioulnar synostosis with microcephaly and scoliosis syndrome) | is equivalent to | 3268 |

717338006 (Koolen De Vries syndrome) | is equivalent to | 96169 |

765137006 (Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency) | is equivalent to | 308425 |

1251449006 (USP18 deficiency) | is equivalent to | 481665 |

34911001 (Congenital hypoplasia of penis) | is equivalent to | 95707 |

66651005 (Triploidy syndrome) | is equivalent to | 3376 |

719395001 (Hadziselimovic syndrome) | is equivalent to | 217026 |

63844009 (Oculocutaneous albinism) | is equivalent to | 55 |

74703006 (HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency) | is equivalent to | 766 |

722762005 (GM3 synthase deficiency) | is equivalent to | 370933 |

1169355000 (Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome) | is equivalent to | 500150 |

190681003 (Cystinosis) | is equivalent to | 213 |

771509001 (Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation) | is equivalent to | 324525 |

715439000 (Familial partial lipodystrophy Dunnigan type) | is equivalent to | 2348 |

129644003 (Myeloperoxidase deficiency syndrome) | is equivalent to | 2587 |

770723007 (Optic atrophy, intellectual disability syndrome) | is equivalent to | 401777 |

1251402007 (Congenital infiltrating lipomatosis of face) | is equivalent to | 583097 |

789674008 (SPOAN and SPOAN-related disorder) | is equivalent to | 431320 |

720598005 (Doughnut lesion of calvaria and bone fragility syndrome) | is equivalent to | 85192 |

721310007 (Aggressive natural killer-cell leukemia) | is equivalent to | 86873 |

765756007 (Benign infantile seizure with mild gastroenteritis syndrome) | is equivalent to | 166305 |

707747007 (Pseudoprimary hyperaldosteronism) | is equivalent to | 526 |

718555006 (Juvenile amyotrophic lateral sclerosis) | is equivalent to | 300605 |

723973002 (Sirenomelus) | is equivalent to | 3169 |

1268632002 (Primary squamous cell carcinoma of gallbladder and extrahepatic biliary tract) | is equivalent to | 424996 |

763835004 (Oro-facial digital syndrome type 13) | is equivalent to | 141330 |

716683005 (17q21.31 microduplication syndrome) | is equivalent to | 217340 |

234583001 (Leukocyte adhesion deficiency - type 2) | is equivalent to | 99843 |

445431000 (Frasier syndrome) | is equivalent to | 347 |

359732009 (Hereditary von Willebrand disease type 2N) | is equivalent to | 166093 |

763742008 (Intellectual disability, polydactyly, uncombable hair syndrome) | is equivalent to | 3082 |

716232002 (Autosomal dominant spondylocostal dysostosis) | is equivalent to | 1797 |

1208937004 (Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies) | is equivalent to | 369897 |

765100000 (RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy) | is equivalent to | 255235 |

774102003 (Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome) | is equivalent to | 397973 |

733469003 (Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome) | is equivalent to | 2435 |

239826001 (Chronic infantile neurological, cutaneous and articular syndrome) | is equivalent to | 1451 |

778043005 (Ring chromosome 17 syndrome) | is equivalent to | 1441 |

764940002 (Inherited acute myeloid leukemia) | is equivalent to | 319465 |

1172595004 (C11ORF73-related autosomal recessive hypomyelinating leukodystrophy) | is equivalent to | 495844 |

702351004 (Spondylocarpotarsal synostosis syndrome) | is equivalent to | 3275 |

51118003 (Congenital atresia of duodenum) | is equivalent to | 1203 |

726107008 (Distal myopathy Welander type) | is equivalent to | 603 |

213026003 (Malignant hyperthermia caused by anesthetic) | is equivalent to | 423 |

61808009 (Multiple endocrine neoplasia, type 2) | is equivalent to | 653 |

75659004 (Acquired partial lipodystrophy) | is equivalent to | 79087 |

1231751000 (Recurrent idiopathic neuroretinitis) | is equivalent to | 499103 |

414667000 (Meningomyelocele) | is equivalent to | 93969 |

715316005 (Neurogenic arthrogryposis multiplex congenita) | is equivalent to | 1143 |

45894003 (Medionecrosis of aorta) | is equivalent to | 229 |

398114001 (Ehlers-Danlos syndrome) | is equivalent to | 98249 |

197442005 (Secondary sclerosing cholangitis) | is equivalent to | 447774 |

715628009 (MORM syndrome) | is equivalent to | 75858 |

768939009 (Primary tethered cord syndrome) | is equivalent to | 268861 |

1237512003 (Short stature, developmental delay, congenital heart defect syndrome) | is equivalent to | 488618 |

230439004 (Epilepsy with continuous spike wave during slow-wave sleep) | is equivalent to | 725 |

783736003 (Malignant melanoma of mucous membrane) | is equivalent to | 168999 |

59399004 (Cutis laxa, x-linked) | is equivalent to | 198 |

1222649004 (Auditory neuropathy, optic atrophy syndrome) | is equivalent to | 542585 |

127040003 (Sickle cell-hemoglobin SS disease) | is equivalent to | 232 |

240081004 (Autosomal recessive centronuclear myopathy) | is equivalent to | 169186 |

24412005 (Congenital secretory diarrhea, chloride type) | is equivalent to | 53689 |

782753000 (Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome) | is equivalent to | 397709 |

733520002 (20q13.33 microdeletion syndrome) | is equivalent to | 261311 |

57436000 (Congenital absence of external ear) | is equivalent to | 93976 |

83015004 (Saethre-Chotzen syndrome) | is equivalent to | 794 |

702373006 (Hereditary myopathy with early respiratory failure) | is equivalent to | 178464 |

89155008 (Systemic sclerosis) | is equivalent to | 90291 |

733453005 (Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome) | is equivalent to | 306504 |

82236004 (Familial x-linked hypophosphatemic vitamin D refractory rickets) | is equivalent to | 89936 |

1228859008 (Mixed cystic lymphatic malformation) | is equivalent to | 458792 |

297231002 (3-Methylglutaconic aciduria type 2) | is equivalent to | 111 |

1268899005 (Primary pleuropulmonary blastoma) | is equivalent to | 64742 |

53748002 (Congenital junctional epidermolysis bullosa-pyloric atresia syndrome) | is equivalent to | 79403 |

399889006 (Hereditary lymphedema type I) | is equivalent to | 79452 |

772126000 (Poikiloderma with neutropenia) | is equivalent to | 221046 |

720976009 (ALG3 congenital disorder of glycosylation) | is equivalent to | 79321 |

770900000 (Familial omphalocele syndrome with facial dysmorphism) | is equivalent to | 280403 |

4199009 (18p partial trisomy syndrome) | is equivalent to | 1715 |

766874001 (Cono-spondylar dysplasia) | is equivalent to | 420794 |

782744007 (Lipoic acid synthetase deficiency) | is equivalent to | 401859 |

79974007 (Cat scratch disease) | is equivalent to | 50839 |

1493002 (Acute endophthalmitis) | is equivalent to | 279888 |

719171005 (Spondyloepimetaphyseal dysplasia Missouri type) | is equivalent to | 93356 |

58275005 (Variegate porphyria) | is equivalent to | 79473 |

80432009 (Porokeratosis of Mibelli) | is equivalent to | 735 |

402425006 (Adult onset dermatomyositis) | is equivalent to | 221 |

763886009 (Spondyloperipheral dysplasia with short ulna syndrome) | is equivalent to | 1856 |

445928005 (Eisenmenger's syndrome) | is equivalent to | 97214 |

237706000 (Autoimmune hypophysitis) | is equivalent to | 95506 |

773494008 (14q24.1q24.3 microdeletion syndrome) | is equivalent to | 401935 |

67144006 (Epidermolysis bullosa simplex) | is equivalent to | 304 |

763462004 (X-linked lethal multiple pterygium syndrome) | is equivalent to | 79447 |

733466005 (Camptodactyly taurinuria syndrome) | is equivalent to | 1325 |

1268542008 (Primary invasive intraductal papillary-mucinous carcinoma of pancreas) | is equivalent to | 424058 |

237651005 (Insulin resistance - type A) | is equivalent to | 2297 |

771178004 (Edinburgh malformation syndrome) | is equivalent to | 1895 |

253158009 (Hydranencephaly with proliferative vasculopathy) | is equivalent to | 221126 |

32219008 (Craniorachischisis) | is equivalent to | 63260 |

230502003 (Congenital anosmia) | is equivalent to | 88620 |

703389002 (CASK related intellectual disability) | is equivalent to | 163937 |

725390002 (Acute myeloid leukemia with t(8;16)(p11;p13) translocation) | is equivalent to | 370026 |

770668007 (Paternal uniparental disomy of chromosome 13) | is equivalent to | 99324 |

1197363004 (Pediatric arterial ischemic stroke) | is equivalent to | 439175 |

1268697005 (Primary adenosarcoma of corpus uteri) | is equivalent to | 213600 |

410801005 (Juvenile idiopathic arthritis, enthesitis related arthritis) | is equivalent to | 85438 |

764630003 (Mosaic trisomy 7 syndrome) | is equivalent to | 1747 |

1197745002 (PPARG-related familial partial lipodystrophy) | is equivalent to | 79083 |

719011002 (X-linked intellectual disability Pai type) | is equivalent to | 85322 |

1220590003 (Familial chilblain lupus erythematosus) | is equivalent to | 481662 |

716230005 (Shprintzen Goldberg omphalocele syndrome) | is equivalent to | 3164 |

719427001 (15q11q13 microduplication syndrome) | is equivalent to | 238446 |

59292006 (Hemiplegic migraine) | is equivalent to | 569 |

50123005 (Beals auriculo-osteodysplasia syndrome) | is equivalent to | 114 |

720410001 (Acro-oto-ocular syndrome) | is equivalent to | 2980 |

238899009 (Lipodystrophia centrifugalis abdominalis infantalis) | is equivalent to | 90156 |

764857004 (Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome) | is equivalent to | 988 |

230191005 (Rasmussen syndrome) | is equivalent to | 1929 |

65986000 (Fetal aminopterin syndrome) | is equivalent to | 1908 |

818966007 (Avascular necrosis of metatarsal bone) | is equivalent to | 564003 |

50658006 (Testosterone 17-beta-dehydrogenase deficiency) | is equivalent to | 752 |

276701009 (Fetal cytomegalovirus syndrome) | is equivalent to | 294 |

192689006 (Rubella encephalitis) | is equivalent to | 83616 |

232441008 (Congenital vocal cord palsy) | is equivalent to | 137932 |

1230290005 (Cytokine release syndrome due to chimeric antigen receptor T-cell immunotherapy) | is equivalent to | 542323 |

702431004 (Feingold syndrome) | is equivalent to | 1305 |

239140003 (Nevus elasticus) | is equivalent to | 228254 |

721973006 (Lipodystrophy, intellectual disability, deafness syndrome) | is equivalent to | 50811 |

703298001 (Diffuse lymphatic malformation) | is equivalent to | 141209 |

763375003 (Autosomal dominant spastic paraplegia type 19) | is equivalent to | 100999 |

50855007 (Juvenile hemochromatosis) | is equivalent to | 79230 |

721227001 (Hunter McAlpine craniosynostosis syndrome) | is equivalent to | 97340 |

734029004 (Distal 22q11.2 microdeletion syndrome) | is equivalent to | 261330 |

1217227009 (Scedosporiosis) | is equivalent to | 449280 |

724357007 (Hereditary cerebral hemorrhage with amyloidosis) | is equivalent to | 85458 |

86081009 (Herpes gestationis) | is equivalent to | 63275 |

72275000 (Relapsing polychondritis) | is equivalent to | 728 |

30174008 (Childhood hypophosphatasia) | is equivalent to | 247667 |

1279891002 (Multiple mitochondrial dysfunctions syndrome type 6) | is equivalent to | 569290 |

723554006 (Aplasia cutis congenita with epibulbar dermoid syndrome) | is equivalent to | 3339 |

230387008 (Benign occipital epilepsy of childhood - early onset variant) | is equivalent to | 98815 |

763377006 (Autosomal spastic paraplegia type 30) | is equivalent to | 101010 |

765741003 (Adenocarcinoma of gallbladder and extrahepatic biliary tract) | is equivalent to | 424991 |

764629008 (Mosaic trisomy 5 syndrome) | is equivalent to | 96060 |

420932006 (Episodic ataxia type 2) | is equivalent to | 97 |

783011004 (Persistent Eustachian valve) | is equivalent to | 99120 |

720812002 (Craniosynostosis, anal anomaly, porokeratosis syndrome) | is equivalent to | 85199 |

239028001 (Odontotrichomelic syndrome) | is equivalent to | 2723 |

719824001 (Vici syndrome) | is equivalent to | 1493 |

83942000 (Acute disseminated encephalomyelitis) | is equivalent to | 83597 |

766032007 (Hartsfield syndrome) | is equivalent to | 2117 |

1269271003 (Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome) | is equivalent to | 544628 |

768843007 (DNMT3A-related overgrowth syndrome) | is equivalent to | 404443 |

763135001 (Charcot-Marie-Tooth disease type 4E) | is equivalent to | 99951 |

785726009 (Hyperekplexia epilepsy syndrome) | is equivalent to | 163985 |

1268348008 (Primary small cell carcinoma of lung) | is equivalent to | 70573 |

253336000 (Isomerism of right atrial appendage) | is equivalent to | 97548 |

254047006 (Spondylodysplasia, Torrance type) | is equivalent to | 85166 |

87730004 (Capillary leak syndrome) | is equivalent to | 188 |

30188007 (Alpha-1-antitrypsin deficiency) | is equivalent to | 60 |

770791000 (Autosomal dominant neovascular inflammatory vitreoretinopathy) | is equivalent to | 329211 |

307605009 (Osteoblastoma of bone) | is equivalent to | 58040 |

763218005 (Congenital trigeminal anesthesia) | is equivalent to | 231013 |

718680001 (Oro-facial digital syndrome type 9) | is equivalent to | 141007 |

771185000 (Imperforate oropharynx, costovertebral anomalies syndrome) | is equivalent to | 2759 |

697962004 (Hemifacial hyperplasia) | is equivalent to | 141145 |

782781006 (High bone mass osteogenesis imperfecta) | is equivalent to | 314029 |

416925005 (Eastern equine encephalitis virus infection) | is equivalent to | 83594 |

1197148005 (Sanjad Sakati syndrome) | is equivalent to | 2323 |

1204421005 (Lymphedema, posterior choanal atresia syndrome) | is equivalent to | 99141 |

719514002 (Autosomal dominant Charcot-Marie-Tooth disease type 2M) | is equivalent to | 228179 |

448476001 (Subpulmonary stenosis) | is equivalent to | 3190 |

785723001 (Persistent idiopathic facial pain) | is equivalent to | 398147 |

764992006 (Muscle filaminopathy) | is equivalent to | 171445 |

715950008 (ALK-positive large B-cell lymphoma) | is equivalent to | 364043 |

403774004 (Hereditary sclerosing poikiloderma of Weary) | is equivalent to | 221039 |

770592009 (Proton pump inhibitor responsive eosinophilic esophagitis) | is equivalent to | 411696 |

400031009 (Juvenile xanthogranuloma) | is equivalent to | 158000 |

773623000 (Spigelian hernia with cryptorchidism syndrome) | is equivalent to | 314432 |

60952007 (Urocanate hydratase deficiency) | is equivalent to | 210128 |

109492001 (Dentin dysplasia) | is equivalent to | 1653 |

154818001 (Congenital afibrinogenemia) | is equivalent to | 98880 |

33257003 (Congenital duplication of digestive organs) | is equivalent to | 238 |

29504002 (Polymorphous corneal dystrophy) | is equivalent to | 98973 |

237951008 (3-Methylglutaconic aciduria type 1) | is equivalent to | 67046 |

763771009 (Leiomyosarcoma of cervix uteri) | is equivalent to | 213807 |

389203001 (White sponge nevus) | is equivalent to | 171723 |

398148000 (Hereditary sensory and autonomic neuropathy type II) | is equivalent to | 970 |

234533006 (X-linked agammaglobulinemia with growth hormone deficiency) | is equivalent to | 632 |

1229943004 (SIM1-related Prader-Willi-like syndrome) | is equivalent to | 398079 |

1229873009 (17q24.2 microdeletion syndrome) | is equivalent to | 529962 |

1169360001 (Chronic relapsing inflammatory optic neuropathy) | is equivalent to | 499085 |

715733000 (Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency) | is equivalent to | 95699 |

191306005 (Immunoglobulin A vasculitis) | is equivalent to | 761 |

26146002 (Complete transposition of great vessels) | is equivalent to | 860 |

1186654001 (Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome) | is equivalent to | 529977 |

765191009 (Kandori fleck retina syndrome) | is equivalent to | 99179 |

410798004 (Juvenile idiopathic arthritis, oligoarthritis) | is equivalent to | 85410 |

1177173001 (Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome) | is equivalent to | 508542 |

720638000 (Charcot-Marie-Tooth disease type 4J) | is equivalent to | 139515 |

719646006 (8p11.2 deletion syndrome) | is equivalent to | 251066 |

233703007 (Interstitial lung disease) | is equivalent to | 182095 |

1260133007 (Syndromic sensorineural deafness due to combined oxidative phosphorylation defect) | is equivalent to | 457223 |

722205008 (Palmoplantar keratoderma Nagashima type) | is equivalent to | 140966 |

720813007 (Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome) | is equivalent to | 1538 |

719012009 (X-linked intellectual disability Miles Carpenter type) | is equivalent to | 85283 |

19087001 (Tinea kerion) | is equivalent to | 499 |

783097004 (Stickler syndrome type 3) | is equivalent to | 166100 |

764524005 (Distal 22q11.2 microduplication syndrome) | is equivalent to | 261337 |

1230017000 (Non-recovering brachial plexus injury due to birth trauma) | is equivalent to | 439202 |

1216942009 (Cerebral ventriculomegaly, cystic kidney disease) | is equivalent to | 443988 |

733163007 (Primary malignant neuroendocrine neoplasm of anal canal) | is equivalent to | 100082 |

86923008 (Juvenile retinoschisis) | is equivalent to | 792 |

205769006 (Situs inversus with levocardia) | is equivalent to | 95854 |

1268389006 (Primary undifferentiated carcinoma of oesophagus) | is equivalent to | 418951 |

871625003 (Intermediate atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves) | is equivalent to | 576242 |

732264002 (Coenzyme A synthase protein associated neurodegeneration) | is equivalent to | 397725 |

1237413006 (Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome) | is equivalent to | 448251 |

782785002 (X-linked osteoporosis with fractures) | is equivalent to | 391330 |

702377007 (Hypermanganesemia with dystonia, polycythemia, and cirrhosis) | is equivalent to | 309854 |

238931006 (Eosinophilic cellulitis) | is equivalent to | 901 |

84241008 (Lipoid dermatoarthritis) | is equivalent to | 139436 |

724094005 (Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome) | is equivalent to | 79118 |

716664003 (Primary dystonia 21) | is equivalent to | 306734 |

1172899000 (PMP22-RAI1 contiguous gene duplication syndrome) | is equivalent to | 477817 |

770721009 (Microcephaly, thin corpus callosum, intellectual disability syndrome) | is equivalent to | 397951 |

716740009 (Thomas syndrome) | is equivalent to | 3316 |

21009004 (Echinococcus multilocularis infection) | is equivalent to | 284 |

124525004 (Deficiency of AMP deaminase) | is equivalent to | 45 |

768933005 (Semicircular canal dehiscence syndrome) | is equivalent to | 420402 |

399959003 (Premature aging syndrome) | is equivalent to | 79389 |

109477002 (Enamel-renal syndrome) | is equivalent to | 1031 |

42779002 (Reducing-body myopathy) | is equivalent to | 97239 |

765750001 (Angioosteohypotrophic syndrome) | is equivalent to | 75508 |

40315008 (Annular pancreas) | is equivalent to | 675 |

255106001 (Teratoma of testis) | is equivalent to | 363483 |

717766000 (Alport syndrome autosomal dominant) | is equivalent to | 88918 |

718105008 (Lichen amyloidosis) | is equivalent to | 49804 |

27971006 (Terrien's marginal degeneration of cornea) | is equivalent to | 519410 |

722209002 (Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome) | is equivalent to | 2824 |

1260450002 (Infantile multisystem neurologic, endocrine, pancreatic disease) | is equivalent to | 456312 |

733343005 (Primary squamous cell carcinoma of oral cavity) | is equivalent to | 502363 |

1230005002 (Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome) | is equivalent to | 447961 |

12313004 (Androgen resistance syndrome) | is equivalent to | 754 |

303098002 (3-Phosphoglycerate dehydrogenase deficiency) | is equivalent to | 79351 |

783089006 (Macrocephaly, intellectual disability, autism syndrome) | is equivalent to | 210548 |

1269047004 (Primary papillary tumour of pineal region) | is equivalent to | 251915 |

771145006 (Herpetiform pemphigus) | is equivalent to | 208524 |

719466009 (Cleft palate with short stature and vertebral anomaly syndrome) | is equivalent to | 2015 |

1255270006 (Lymphoplasmacytic lymphoma without immunoglobulin M production) | is equivalent to | 443159 |

766929007 (Genetic hyperferritinemia without iron overload) | is equivalent to | 254704 |

124327008 (Deficiency of mevalonate kinase) | is equivalent to | 309025 |

1231182008 (Isolated osteopoikilosis) | is equivalent to | 166119 |

773306002 (Congenital lethal myopathy Compton North type) | is equivalent to | 210163 |

281587000 (Pentalogy of Cantrell) | is equivalent to | 1335 |

718189004 (Recombinant chromosome 8 syndrome) | is equivalent to | 96167 |

716584007 (Chapare hemorrhagic fever) | is equivalent to | 319244 |

1230344000 (Microphthalmia, microtia, fetal akinesia syndrome) | is equivalent to | 2547 |

19604005 (Triglyceride storage disease with ichthyosis) | is equivalent to | 98907 |

77039003 (Acquired progressive kinking of hair) | is equivalent to | 37559 |

237900002 (Calciphylaxis) | is equivalent to | 280062 |

53132006 (Zollinger-Ellison syndrome) | is equivalent to | 913 |

118611004 (Sezary's disease) | is equivalent to | 3162 |

1187130004 (Agenesis of scrotum) | is equivalent to | 495879 |

234620006 (Hereditary C1 esterase inhibitor deficiency - dysfunctional factor) | is equivalent to | 100051 |

715534008 (ICCA syndrome) | is equivalent to | 31709 |

720830009 (Congenital neuronal ceroid lipofuscinosis) | is equivalent to | 168486 |

441575009 (Ischemic priapism) | is equivalent to | 140949 |

719949001 (Trigonocephaly with broad thumb syndrome) | is equivalent to | 3365 |

40632002 (Charcot-Marie-Tooth disease, type IA) | is equivalent to | 101081 |

240156000 (Juvenile idiopathic generalized osteoporosis) | is equivalent to | 85193 |

783735004 (Maternal uniparental disomy of chromosome X) | is equivalent to | 261519 |

1197476009 (Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia) | is equivalent to | 572428 |

417089009 (Limbal stem cell deficiency) | is equivalent to | 171673 |

715672007 (Multiple epiphyseal dysplasia type 4) | is equivalent to | 93307 |

1196846002 (Primary cystadenocarcinoma of intrahepatic bile duct) | is equivalent to | 424982 |

42432003 (Oto-palato-digital syndrome, type II) | is equivalent to | 90652 |

253109005 (Parietal encephalocele) | is equivalent to | 268826 |

95794005 (Tolosa-Hunt syndrome) | is equivalent to | 64686 |

238687000 (Familial cold urticaria) | is equivalent to | 47045 |

1197361002 (Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency) | is equivalent to | 436159 |

764512003 (Distal trisomy 22q syndrome) | is equivalent to | 96109 |

127012008 (Lipoatrophic diabetes) | is equivalent to | 528 |

703385008 (Anomalous origin of pulmonary artery from ascending aorta) | is equivalent to | 99050 |

1222655009 (Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome) | is equivalent to | 543470 |

725050005 (Autosomal dominant osteopetrosis type 2) | is equivalent to | 53 |

404689008 (Alternating hemiplegia) | is equivalent to | 209978 |

1222680009 (Combined oxidative phosphorylation defect type 24) | is equivalent to | 444458 |

703528008 (Cutis gyrata syndrome of Beare and Stevenson) | is equivalent to | 1555 |

77506005 (Infection by Trypanosoma cruzi) | is equivalent to | 3386 |

732262003 (Marfanoid syndrome De Silva type) | is equivalent to | 2464 |

719976001 (Glaucoma and sleep apnea syndrome) | is equivalent to | 2085 |

715907003 (Multiple endocrine neoplasia type 4) | is equivalent to | 276152 |

111321007 (Right aortic arch) | is equivalent to | 99081 |

237928008 (Disorder of ornithine metabolism) | is equivalent to | 289869 |

10567003 (Four X syndrome) | is equivalent to | 9 |

237701005 (Pituitary apoplexy) | is equivalent to | 95613 |

60812006 (Giant cell myocarditis) | is equivalent to | 329874 |

68116008 (Dentatorubropallidoluysian degeneration) | is equivalent to | 101 |

254125009 (Axial osteosclerosis) | is equivalent to | 2777 |

1187463001 (Microcystic stromal tumor of ovary) | is equivalent to | 569248 |

818950005 (Blau syndrome) | is equivalent to | 90340 |

707492001 (Primary squamous cell carcinoma of hypopharynx) | is equivalent to | 494547 |

109995007 (Myelodysplastic syndrome (clinical)) | is equivalent to | 52688 |

715568002 (Gnathodiaphyseal dysplasia) | is equivalent to | 53697 |

19044004 (Spirillary fever) | is equivalent to | 99903 |

715669000 (Intestinal epithelial dysplasia) | is equivalent to | 92050 |

8634009 (Distichiasis-lymphedema syndrome) | is equivalent to | 33001 |

713572001 (Malignant neoplastic disease co-occurrent with human immunodeficiency virus infection) | is equivalent to | 443291 |

83728000 (Polyglandular autoimmune syndrome, type 2) | is equivalent to | 3143 |

1234823004 (Idiopathic peliosis hepatis) | is equivalent to | 480524 |

40951006 (Primary hyperoxaluria, type II) | is equivalent to | 93599 |

719158007 (Syndactyly type 4) | is equivalent to | 93405 |

763869003 (Radiation myelitis) | is equivalent to | 90021 |

65520001 (Primary hyperoxaluria, type I) | is equivalent to | 93598 |

765138001 (Maternal hyperthermia induced birth defect) | is equivalent to | 2216 |

234582006 (Leukocyte adhesion deficiency - type 1) | is equivalent to | 99842 |

711481001 (X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia) | is equivalent to | 317476 |

430476004 (Diffuse panbronchiolitis) | is equivalent to | 171700 |

716515000 (1q41q42 microdeletion syndrome) | is equivalent to | 250999 |

733083006 (Congenital disorder of glycosylation type 1r) | is equivalent to | 300536 |

733492003 (Carney triad) | is equivalent to | 139411 |

782917007 (Familial adrenal hypoplasia with absent pituitary luteinizing hormone) | is equivalent to | 95700 |

205819008 (Multiple pterygium syndrome) | is equivalent to | 294060 |

230380005 (Balo concentric sclerosis) | is equivalent to | 228165 |

297237003 (Generalized uridine diphosphate galactose-4-epimerase deficiency) | is equivalent to | 308487 |

783620009 (Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis) | is equivalent to | 244305 |

399903008 (Infantile digital fibromatosis) | is equivalent to | 199267 |

717156002 (Biliary atresia with splenic malformation syndrome) | is equivalent to | 244283 |

787171006 (21q22.11q22.12 microdeletion syndrome) | is equivalent to | 261323 |

783146009 (NLRP12-associated hereditary periodic fever syndrome) | is equivalent to | 247868 |

19972008 (Postencephalitic parkinsonism) | is equivalent to | 97349 |

1186714005 (Combined immunodeficiency due to ITK deficiency) | is equivalent to | 538963 |

1268548007 (Primary salivary gland type carcinoma of oesophagus) | is equivalent to | 418945 |

449817000 (Peters plus syndrome) | is equivalent to | 709 |

732259001 (Distal monosomy 17q) | is equivalent to | 1597 |

770562000 (Maternal uniparental disomy of chromosome 1) | is equivalent to | 251009 |

449899001 (Dropped head syndrome) | is equivalent to | 447881 |

385482004 (Osteogenesis imperfecta type I) | is equivalent to | 216796 |

400102008 (Lipoblastoma) | is equivalent to | 247762 |

1222662000 (Neonatal epileptic encephalopathy due to glutaminase deficiency) | is equivalent to | 557064 |

253900005 (Congenital posterior urethral valves) | is equivalent to | 93110 |

32599008 (Hemodialysis-associated amyloidosis) | is equivalent to | 85446 |

86166000 (Alopecia universalis) | is equivalent to | 701 |

703543005 (Infantile ascending hereditary spastic paralysis) | is equivalent to | 293168 |

1208745002 (Serotonin-producing neuroendocrine neoplasm of pancreas) | is equivalent to | 506090 |

700056005 (Mosaic variegated aneuploidy syndrome) | is equivalent to | 1052 |

236713006 (X-linked recessive nephrolithiasis with renal failure) | is equivalent to | 93622 |

723674005 (Simple cryoglobulinemia) | is equivalent to | 91139 |

403803002 (Linear and whorled nevoid hypermelanosis) | is equivalent to | 79150 |

253733006 (Pleuropericardial cyst) | is equivalent to | 99131 |

1208488006 (SATB2-associated syndrome) | is equivalent to | 576278 |

419395007 (Schnyder crystalline cornea dystrophy) | is equivalent to | 98967 |

764850002 (Autosomal dominant Charcot-Marie-Tooth disease type 2A2) | is equivalent to | 99947 |

402463003 (Familial localized cutaneous amyloidosis) | is equivalent to | 353220 |

725416005 (Cirrhotic cardiomyopathy) | is equivalent to | 57777 |

239912009 (Primary Sjögren's syndrome) | is equivalent to | 289390 |

1268885006 (Primary ependymoblastoma) | is equivalent to | 251880 |

715737004 (Parkinsonism with dementia of Guadeloupe) | is equivalent to | 97355 |

1237412001 (Regressive spondylometaphyseal dysplasia) | is equivalent to | 448267 |

254017009 (Infraorbital facial cleft - Tessier cleft 5) | is equivalent to | 141261 |

50926003 (Hyperimmunoglobulin E syndrome) | is equivalent to | 2314 |

766812005 (Trichodysplasia xeroderma syndrome) | is equivalent to | 3361 |

238883003 (Cytophagic histiocytic panniculitis) | is equivalent to | 94087 |

1169358003 (MARCH syndrome) | is equivalent to | 500135 |

1156454002 (Embryonal carcinoma) | is equivalent to | 180226 |

417570003 (Gestational choriocarcinoma) | is equivalent to | 99926 |

286071000119109 (Congenital peripheral pulmonary artery stenosis) | is equivalent to | 99084 |

770558006 (Late-onset distal myopathy Markesbery Griggs type) | is equivalent to | 98912 |

1186728004 (Pediatric multiple sclerosis) | is equivalent to | 477738 |

74928006 (Camptomelic dysplasia) | is equivalent to | 140 |

700463002 (Alpha-methylacyl-CoA racemase deficiency disorder) | is equivalent to | 79095 |

237977000 (Disorder of glycerol metabolism) | is equivalent to | 79179 |

1217373008 (Diaphragmatic hernia, short bowel, asplenia syndrome) | is equivalent to | 527468 |

77542002 (Grebe syndrome) | is equivalent to | 2098 |

1177179002 (Oral-facial-digital syndrome with short stature and brachymesophalangia) | is equivalent to | 508501 |

1230015008 (Hereditary angioedema with C1Inh (C1 esterase inhibitor) deficiency) | is equivalent to | 528623 |

408537003 (Barber-Say syndrome) | is equivalent to | 1231 |

89024000 (Riedel's thyroiditis) | is equivalent to | 64744 |

81854007 (Alexander's disease) | is equivalent to | 58 |

726610000 (Autosomal recessive spastic paraplegia type 63) | is equivalent to | 401805 |

33258008 (Primary eosinophilic endomyocardial restrictive cardiomyopathy) | is equivalent to | 75566 |

93255008 (Congenital hypoplasia of femur) | is equivalent to | 1987 |

55912009 (Glycogen storage disease, type V) | is equivalent to | 368 |

1237181009 (Symptomatic form of haemochromatosis type 1) | is equivalent to | 465508 |

770761005 (Phalangeal microgeodic syndrome) | is equivalent to | 352636 |

28861008 (Crouzon syndrome) | is equivalent to | 207 |

719468005 (Cleft palate with stapes fixation and oligodontia syndrome) | is equivalent to | 2010 |

702406000 (Sex cord stromal tumor of testis) | is equivalent to | 363489 |

711154007 (Cole disease) | is equivalent to | 324561 |

312214005 (Floating-Harbor syndrome) | is equivalent to | 2044 |

723124007 (Primary progressive apraxia of speech) | is equivalent to | 314566 |

782942003 (Renal caliceal diverticuli and deafness syndrome) | is equivalent to | 2838 |

254068007 (Opsismodysplasia) | is equivalent to | 2746 |

782918002 (2-aminoadipic 2-oxoadipic aciduria) | is equivalent to | 79154 |

726723004 (Ring chromosome 13 syndrome) | is equivalent to | 96176 |

1228871002 (PCNA-related progressive neurodegenerative photosensitivity syndrome) | is equivalent to | 438134 |

1197360001 (X-linked dominant erythropoietic protoporphyria) | is equivalent to | 443197 |

1187639002 (Martinique crinkled retinal pigment epitheliopathy) | is equivalent to | 466718 |

715401008 (Reynolds syndrome) | is equivalent to | 779 |

717045004 (Autosomal dominant hyperinsulinism due to Kir6.2 deficiency) | is equivalent to | 276580 |

60002000 (Hypertrophic gastritis) | is equivalent to | 2494 |

782825008 (Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome) | is equivalent to | 306558 |

230293003 (Carbon monoxide-induced parkinsonism) | is equivalent to | 306686 |

128205005 (Hereditary sensory and autonomic neuropathy) | is equivalent to | 140471 |

254865006 (Fibroma of ovary) | is equivalent to | 314473 |

819950002 (Generalized glucocorticoid resistance syndrome) | is equivalent to | 786 |

111304003 (Kozlowski spondylometaphyseal dysplasia) | is equivalent to | 93314 |

233629001 (Idiopathic bronchiectasis) | is equivalent to | 60033 |

782747000 (Autosomal recessive spastic paraplegia type 66) | is equivalent to | 401815 |

773730002 (Osteopetrosis hypogammaglobulinemia syndrome) | is equivalent to | 178389 |

720748007 (Cooper Jabs syndrome) | is equivalent to | 1488 |

1187640000 (Combined oxidative phosphorylation defect type 28) | is equivalent to | 466784 |

762282007 (Immunoglobulin G4 related pachymeningitis) | is equivalent to | 449427 |

192990004 (Myoclonic epilepsy in infancy) | is equivalent to | 86909 |

725099009 (Craniometadiaphyseal dysplasia wormian bone type) | is equivalent to | 85184 |

763373005 (Autosomal recessive spastic paraplegia type 5A) | is equivalent to | 100986 |

59990008 (Mucopolysaccharidosis, MPS-III-B) | is equivalent to | 79270 |

703310005 (Autosomal dominant progressive nephropathy with hypertension) | is equivalent to | 88659 |

763866005 (Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome) | is equivalent to | 420584 |

111029001 (Acrokerato-elastoidosis) | is equivalent to | 38 |

82214002 (Trench fever) | is equivalent to | 64694 |

735676003 (Narcolepsy type 1) | is equivalent to | 2073 |

66937008 (Glycogen storage disease type III) | is equivalent to | 366 |

707436001 (Isolated pulmonary capillaritis) | is equivalent to | 264691 |

204942005 (Renal agenesis) | is equivalent to | 411709 |

241955009 (Acquired C1 esterase inhibitor deficiency) | is equivalent to | 528663 |

62628008 (Multiple synostosis syndrome) | is equivalent to | 3237 |

763630007 (Satoyoshi syndrome) | is equivalent to | 3130 |

782738008 (Karyomegalic interstitial nephritis) | is equivalent to | 401996 |

725146001 (Atypical juvenile parkinsonism) | is equivalent to | 391411 |

732957009 (Brachydactyly and preaxial hallux varus syndrome) | is equivalent to | 1278 |

402917003 (Rift valley fever) | is equivalent to | 319251 |

771180005 (Hallux varus, preaxial polysyndactyly syndrome) | is equivalent to | 2110 |

782881002 (Hereditary sensorimotor neuropathy with hyperelastic skin) | is equivalent to | 280598 |

782940006 (Dobrow syndrome) | is equivalent to | 3262 |

719511005 (Autosomal dominant Charcot-Marie-Tooth disease type 2G) | is equivalent to | 99941 |

47507006 (Rieger syndrome) | is equivalent to | 91483 |

76304001 (Cronkhite-Canada syndrome) | is equivalent to | 2930 |

726615005 (Autosomal recessive limb girdle muscular dystrophy type 2Q) | is equivalent to | 254361 |

720859009 (Ehlers-Danlos syndrome kyphoscoliotic and deafness type) | is equivalent to | 300179 |

231536004 (Atypical autism) | is equivalent to | 199627 |

254051008 (Type III short rib polydactyly syndrome) | is equivalent to | 93271 |

715723008 (Syndactyly type 1) | is equivalent to | 93402 |

733628001 (Thoraco-abdominal enteric duplication) | is equivalent to | 1759 |

237995002 (Depletion of mitochondrial DNA) | is equivalent to | 35698 |

717943008 (Brain malformation, congenital heart disease, postaxial polydactyly syndrome) | is equivalent to | 75389 |

84461004 (Exencephaly) | is equivalent to | 563612 |

22567005 (Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome) | is equivalent to | 750 |

1208621008 (Multiple mitochondrial dysfunctions syndrome type 4) | is equivalent to | 457406 |

818949005 (Congenital absence of body of uterus) | is equivalent to | 180142 |

254170001 (Ichthyosis hystrix of Curth-Macklin) | is equivalent to | 79503 |

254123002 (Dysosteosclerosis) | is equivalent to | 1782 |

205281006 (Distal interphalangeal joint symphalangism) | is equivalent to | 3248 |

1279883006 (Laminin alpha-2 related limb girdle muscular dystrophy R23) | is equivalent to | 565837 |

702365002 (Combined malonic and methylmalonic aciduria) | is equivalent to | 289504 |

717822006 (Goldberg Shprintzen megacolon syndrome) | is equivalent to | 66629 |

773307006 (Zechi Ceide syndrome) | is equivalent to | 217017 |

721208007 (Ectodermal dysplasia with blindness syndrome) | is equivalent to | 1806 |

18121009 (Chronic berylliosis) | is equivalent to | 133 |

11179002 (Glycogen storage disease, type IV) | is equivalent to | 367 |

68067009 (Crigler-Najjar syndrome, type II) | is equivalent to | 79235 |

725908007 (Neurofaciodigitorenal syndrome) | is equivalent to | 2673 |

721226005 (Hughes Stovin syndrome) | is equivalent to | 228116 |

11225002 (Transient hyperammonemia in infancy) | is equivalent to | 289877 |

35691006 (Combined deficiency of sialidase AND beta galactosidase) | is equivalent to | 351 |

709416009 (Acral peeling skin syndrome) | is equivalent to | 263534 |

124275001 (Deficiency of hypoxanthine phosphoribosyltransferase) | is equivalent to | 206428 |

720495005 (Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome) | is equivalent to | 1101 |

230410004 (Benign neonatal familial convulsions) | is equivalent to | 1949 |

773551001 (Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome) | is equivalent to | 363686 |

719104003 (Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome) | is equivalent to | 1366 |

764725008 (9p13 microdeletion syndrome) | is equivalent to | 324313 |

763622006 (Thinking epilepsy) | is equivalent to | 166424 |

715343000 (Familial hypoaldosteronism) | is equivalent to | 427 |

722450007 (GEMSS syndrome) | is equivalent to | 2084 |

702444009 (Autoimmune lymphoproliferative syndrome) | is equivalent to | 3261 |

69408002 (Gorlin syndrome) | is equivalent to | 377 |

1230295000 (B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome) | is equivalent to | 567502 |

276544005 (Apnea of prematurity) | is equivalent to | 99981 |

720569006 (Brachydactyly type A2) | is equivalent to | 93396 |

765204000 (Dyssegmental dysplasia Silverman Handmaker type) | is equivalent to | 1865 |

190818004 (Waldenström macroglobulinemia) | is equivalent to | 33226 |

1148906001 (Acute myeloid leukemia with t(8;21)(q22;q22) RUNX1-RUNX1T1) | is equivalent to | 102724 |

763460007 (X-linked Charcot-Marie-Tooth disease type 5) | is equivalent to | 99014 |

726614009 (Autosomal recessive limb girdle muscular dystrophy type 2P) | is equivalent to | 280333 |

718103001 (Hereditary geniospasm) | is equivalent to | 53372 |

233949008 (Pulmonary capillary hemangiomatosis) | is equivalent to | 199241 |

1268701008 (Primary gliosarcoma of central nervous system) | is equivalent to | 251576 |

32612005 (Disorder of purine metabolism) | is equivalent to | 79191 |

59178007 (Menkes kinky-hair syndrome) | is equivalent to | 565 |

778068007 (Autosomal recessive cutis laxa type 2B) | is equivalent to | 357064 |

35520007 (Nager syndrome) | is equivalent to | 245 |

725104005 (Cheirospondyloenchondromatosis) | is equivalent to | 99647 |

732249002 (Bone dysplasia lethal Holmgren type) | is equivalent to | 1842 |

124128009 (Deficiency of phosphogluconate dehydrogenase) | is equivalent to | 99135 |

372138000 (Carcinoma of esophagus) | is equivalent to | 70482 |

758664007 (Isolated follicle stimulating hormone deficiency) | is equivalent to | 52901 |

240880004 (Wound myiasis) | is equivalent to | 165955 |

773610007 (Chudley McCullough syndrome) | is equivalent to | 314597 |

783202008 (Autosomal dominant secondary polycythemia) | is equivalent to | 247511 |

717155003 (Neonatal intrahepatic cholestasis due to citrin deficiency) | is equivalent to | 247598 |

1268526001 (Primary carcinosarcoma of ovary) | is equivalent to | 213512 |

236533008 (Ochoa syndrome) | is equivalent to | 2704 |

770754006 (2p21 microdeletion syndrome without cystinuria) | is equivalent to | 369881 |

732948003 (Autosomal dominant spastic paraplegia type 10) | is equivalent to | 100991 |

253018005 (Fibrolamellar hepatocellular carcinoma) | is equivalent to | 401920 |

763349002 (Progressive myoclonic epilepsy with dystonia) | is equivalent to | 352596 |

722035007 (MEDNIK syndrome) | is equivalent to | 171851 |

763408003 (Rhabdomyosarcoma of cervix uteri) | is equivalent to | 213802 |

720501007 (Arachnodactyly with abnormal ossification and intellectual disability syndrome) | is equivalent to | 1129 |

783137003 (Radial deficiency, tibial hypoplasia syndrome) | is equivalent to | 1121 |

237961001 (L-2(OH) glutaric aciduria) | is equivalent to | 79314 |

17024001 (Aortopulmonary window) | is equivalent to | 2037 |

733118006 (Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome) | is equivalent to | 1112 |

782823001 (Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome) | is equivalent to | 313846 |

1260128008 (WARS2-related combined oxidative phosphorylation defect) | is equivalent to | 572798 |

733650000 (Adult familial nephronophthisis with spastic quadriparesia syndrome) | is equivalent to | 2666 |

786038001 (Familial nonmedullary primary thyroid carcinoma) | is equivalent to | 319487 |

44697002 (Melorheostosis) | is equivalent to | 2485 |

715217004 (Arthrogryposis with oculomotor limitation and electroretinal anomaly) | is equivalent to | 1154 |

717225001 (Benign adult familial myoclonic epilepsy) | is equivalent to | 86814 |

56453003 (Hereditary cerebral amyloid angiopathy, Dutch type) | is equivalent to | 100006 |

1157162007 (Intravascular large B-cell lymphoma) | is equivalent to | 98839 |

5187006 (Prune belly syndrome) | is equivalent to | 2970 |

1268718007 (Primary malignant thymoma) | is equivalent to | 99868 |

782916003 (Dermotrichic syndrome) | is equivalent to | 99688 |

771081007 (Distal hereditary motor neuropathy type 7) | is equivalent to | 139589 |

402356004 (Chronic graft-versus-host disease) | is equivalent to | 99921 |

27520001 (Pustular psoriasis of palms and soles) | is equivalent to | 163927 |

733113002 (Hypogonadotropic hypogonadism retinitis pigmentosa syndrome) | is equivalent to | 2235 |

1268531004 (Primary alveolar soft part sarcoma) | is equivalent to | 163699 |

445274004 (Deficiency of isobutyryl-CoA dehydrogenase) | is equivalent to | 79159 |

9740002 (Macroencephaly) | is equivalent to | 2477 |

733599009 (Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency) | is equivalent to | 329314 |

763477007 (Primary lymphoma of conjunctiva) | is equivalent to | 319667 |

778048001 (MT-ATP6-related mitochondrial spastic paraplegia) | is equivalent to | 320360 |

238078005 (Familial hypercholesterolemia - homozygous) | is equivalent to | 391665 |

403838000 (Jung syndrome) | is equivalent to | 2321 |

56989000 (Eaton-Lambert syndrome) | is equivalent to | 43393 |

715824008 (Spinocerebellar ataxia type 28) | is equivalent to | 101109 |

719974003 (Hemochromatosis type 3) | is equivalent to | 225123 |

447882007 (Carcinoma of vulva) | is equivalent to | 494418 |

205342008 (Macrodactyly of toes - simple) | is equivalent to | 295047 |

718218005 (Porokeratosis plantaris palmaris et disseminata) | is equivalent to | 737 |

23686004 (Ring chromosome 20 syndrome) | is equivalent to | 1444 |

22935002 (Congenital erythropoietic porphyria) | is equivalent to | 79277 |

722459008 (Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome) | is equivalent to | 2234 |

783245001 (Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection) | is equivalent to | 431166 |

69116000 (Moyamoya disease) | is equivalent to | 2573 |

54954004 (Aspartylglucosaminuria) | is equivalent to | 93 |

405809000 (Ocular motor apraxia Cogan type) | is equivalent to | 1125 |

234969005 (Dentinogenesis imperfecta - Shield's type II) | is equivalent to | 166260 |

709414007 (Deficiency of mitochondrial complex III) | is equivalent to | 1460 |

408539000 (Insulin autoimmune syndrome) | is equivalent to | 411593 |

205067002 (Congenital dislocation of patella) | is equivalent to | 295036 |

770437002 (Fundus pulverulentus) | is equivalent to | 99004 |

21590003 (Congenital zonular cataract) | is equivalent to | 98995 |

718214007 (Mitochondrial neurogastrointestinal encephalomyopathy syndrome) | is equivalent to | 298 |

31155007 (Benign recurrent intrahepatic cholestasis) | is equivalent to | 65682 |

773992003 (Idiopathic macular telangiectasia type 3) | is equivalent to | 353351 |

95243004 (Rolland-Debuqois syndrome) | is equivalent to | 156731 |

1264001009 (De novo thrombotic microangiopathy following transplant of kidney) | is equivalent to | 244275 |

92969008 (Congenital absence of mitral valve) | is equivalent to | 99062 |

93018000 (Congenital anomaly of pericardium) | is equivalent to | 2846 |

719403003 (Leukoencephalopathy co-occurrent with bilateral anterior temporal lobe cysts) | is equivalent to | 139444 |

709105005 (Jackson-Weiss syndrome) | is equivalent to | 1540 |

77798004 (Systemic chromomycosis) | is equivalent to | 182 |

827115000 (Autosomal dominant progressive external ophthalmoplegia) | is equivalent to | 254892 |

1220580006 (Isolated neonatal sclerosing cholangitis) | is equivalent to | 480556 |

413537009 (Angioimmunoblastic T-cell lymphoma) | is equivalent to | 86886 |

1172901009 (Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder) | is equivalent to | 477787 |

782878007 (Autosomal recessive nail dysplasia) | is equivalent to | 280654 |

766888002 (Familial multiple lipomatosis) | is equivalent to | 199276 |

720345008 (Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome) | is equivalent to | 169095 |

771146007 (Holoprosencephaly with caudal dysgenesis syndrome) | is equivalent to | 2165 |

359648001 (Acute myeloid leukemia with maturation, FAB M2) | is equivalent to | 98834 |

766048008 (Acute myeloid leukemia and myelodysplastic syndrome related to radiation) | is equivalent to | 164726 |

773991005 (Idiopathic posterior uveitis) | is equivalent to | 280917 |

232002000 (Snowflake retinal degeneration) | is equivalent to | 91496 |

783194008 (Bleeding diathesis due to thromboxane synthesis deficiency) | is equivalent to | 220443 |

1156403002 (Composite Hodgkin and non-Hodgkin lymphoma) | is equivalent to | 168966 |

1187567002 (Autosomal recessive intermediate Charcot-Marie-Tooth disease type D) | is equivalent to | 435998 |

720515009 (Distal arthrogryposis type 6) | is equivalent to | 1144 |

763277009 (Distal trisomy 8q) | is equivalent to | 96100 |

609565001 (Permanent neonatal diabetes mellitus) | is equivalent to | 99885 |

720412009 (Acropectoral syndrome) | is equivalent to | 85203 |

1268897007 (Primary theca steroid producing cell malignant neoplasm of ovary) | is equivalent to | 99917 |

55236002 (Infantile hypophosphatasia) | is equivalent to | 247651 |

68870007 (Congenital dyserythropoietic anemia, type II) | is equivalent to | 98873 |

253904001 (Megacystis-megaureter syndrome) | is equivalent to | 238637 |

75922002 (Congenital anomaly of ossicles of ear) | is equivalent to | 162526 |

30330001 (Purulent myositis) | is equivalent to | 206994 |

708127008 (Collagenofibrotic glomerulopathy) | is equivalent to | 84087 |

782737003 (Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome) | is equivalent to | 404437 |

32942005 (Glanzmann's thrombasthenia) | is equivalent to | 849 |

725413002 (Febrile infection related epilepsy syndrome) | is equivalent to | 163703 |

707608003 (Amelogenesis imperfecta co-occurrent with cone rod dystrophy) | is equivalent to | 1873 |

254192002 (Inverse junctional epidermolysis bullosa) | is equivalent to | 79405 |

783614008 (Familial steroid-resistant nephrotic syndrome with sensorineural deafness) | is equivalent to | 280406 |

725035001 (Familial partial lipodystrophy Kobberling type) | is equivalent to | 79084 |

38539003 (Infection by Onchocerca volvulus) | is equivalent to | 2737 |

733071009 (Deafness, small bowel diverticulosis, neuropathy syndrome) | is equivalent to | 3217 |

702448007 (Dystonia 6) | is equivalent to | 98806 |

711164003 (STING-associated vasculopathy with onset in infancy) | is equivalent to | 425120 |

722377004 (Carney Stratakis syndrome) | is equivalent to | 97286 |

239932005 (Primary pauci-immune necrotizing and crescentic glomerulonephritis) | is equivalent to | 93126 |

398796005 (Familial type 3 hyperlipoproteinemia) | is equivalent to | 412 |

838276009 (Amyotrophic lateral sclerosis, parkinsonism, dementia complex) | is equivalent to | 90020 |

400138001 (Nodular fasciitis) | is equivalent to | 477742 |

715988005 (Wellesley Carman French syndrome) | is equivalent to | 1373 |

442511009 (Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome) | is equivalent to | 2836 |

1251451005 (MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome) | is equivalent to | 498693 |

766876004 (Combined oxidative phosphorylation defect type 4) | is equivalent to | 254925 |

715561008 (Hereditary papillary renal cell carcinoma) | is equivalent to | 47044 |

430478003 (Macrophage activation syndrome) | is equivalent to | 158061 |

24752008 (Infantile cortical hyperostosis) | is equivalent to | 1310 |

770943008 (Dentin dysplasia with sclerotic bone syndrome) | is equivalent to | 99792 |

111309008 (8q partial trisomy syndrome) | is equivalent to | 1752 |

711403001 (Cerebral folate transport deficiency) | is equivalent to | 217382 |

67202007 (X-linked Ehlers-Danlos syndrome) | is equivalent to | 75497 |

46826000 (Rheumatic chorea) | is equivalent to | 306731 |

1230066003 (Isolated microspherophakia) | is equivalent to | 519396 |

764810000 (Branchiootic syndrome) | is equivalent to | 52429 |

773423007 (Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency) | is equivalent to | 397593 |

732263008 (Melhem Fahl syndrome) | is equivalent to | 2482 |

1187618009 (Autosomal dominant Charcot-Marie-Tooth disease type 2V) | is equivalent to | 447964 |

722389002 (Congenital hereditary facial paralysis with variable hearing loss syndrome) | is equivalent to | 306530 |

4283007 (Mirizzi's syndrome) | is equivalent to | 521219 |

715463008 (Congenital pontocerebellar hypoplasia type 2) | is equivalent to | 2524 |

765435009 (OTULIN-related autoinflammatory syndrome) | is equivalent to | 500062 |

403434009 (Atopic keratoconjunctivitis) | is equivalent to | 163934 |

237614004 (Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency) | is equivalent to | 1227 |

726606003 (Autosomal recessive spastic paraplegia type 32) | is equivalent to | 171622 |

1237368006 (Acute myeloid leukaemia with BCR-ABL1) | is equivalent to | 585867 |

717915004 (Blepharoptosis, myopia, ectopia lentis syndrome) | is equivalent to | 1259 |

1237626001 (Congenital axonal neuropathy with encephalopathy) | is equivalent to | 538101 |

722375007 (Bamforth Lazarus syndrome) | is equivalent to | 1226 |

715397000 (Mesenchymal hamartoma of liver) | is equivalent to | 386 |

722201004 (Pai syndrome) | is equivalent to | 1993 |

1216939003 (Progeroid features, hepatocellular carcinoma predisposition syndrome) | is equivalent to | 435953 |

1230098009 (Femur fibula ulna complex) | is equivalent to | 2019 |

764095005 (Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome) | is equivalent to | 137639 |

231981005 (Birdshot chorioretinitis) | is equivalent to | 179 |

1162916008 (Glycogen storage disease due to muscle beta-enolase deficiency) | is equivalent to | 99849 |

702416008 (Snyder-Robinson syndrome) | is equivalent to | 3063 |

783095007 (Aplasia of uterine cervix) | is equivalent to | 180145 |

721840000 (Hyperuricemia, anemia, renal failure syndrome) | is equivalent to | 217330 |

721311006 (Systemic Epstein-Barr virus positive T-cell lymphoproliferative disease of childhood) | is equivalent to | 364033 |

1187305006 (Partially involuting congenital hemangioma) | is equivalent to | 458785 |

715982006 (Severe combined immunodeficiency due to DCLRE1C deficiency) | is equivalent to | 275 |

1187115008 (Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome) | is equivalent to | 476119 |

1187461004 (Glycogen storage disease due to aldolase A deficiency) | is equivalent to | 57 |

726704006 (Cataract, congenital heart disease, neural tube defect syndrome) | is equivalent to | 314993 |

719597005 (19p13.12 microdeletion syndrome) | is equivalent to | 254346 |

186788009 (Q fever) | is equivalent to | 781 |

5601008 (Klippel-Feil sequence) | is equivalent to | 2345 |

716998009 (Joubert syndrome with ocular defect) | is equivalent to | 220493 |

725105006 (Bleeding disorder due to calcium and DAG-regulated guanine exchange factor-1 deficiency) | is equivalent to | 420566 |

609218006 (Paroxysmal nonkinesigenic dyskinesia) | is equivalent to | 98810 |

715366004 (Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1) | is equivalent to | 1168 |

24790002 (Proximal renal tubular acidosis) | is equivalent to | 47159 |

373420004 (Upshaw-Schulman syndrome) | is equivalent to | 93583 |

725461009 (Microcephalic osteodysplastic primordial dwarfism types I and III) | is equivalent to | 2636 |

1263461006 (Isolated distichiasis) | is equivalent to | 99177 |

716665002 (Chronic intestinal failure) | is equivalent to | 294422 |

1268518009 (Primary small cell neuroendocrine carcinoma of bladder) | is equivalent to | 284400 |

70910003 (Indolent systemic mastocytosis) | is equivalent to | 98848 |

874931001 (Severe achondroplasia, developmental delay, acanthosis nigricans syndrome) | is equivalent to | 85165 |

720520009 (Attenuated Chédiak-Higashi syndrome) | is equivalent to | 352723 |

721225009 (Homocystinuria without methylmalonic aciduria) | is equivalent to | 622 |

715404000 (Amelo-onycho-hypohidrotic syndrome) | is equivalent to | 1028 |

1163259003 (Non syndromic dextrocardia) | is equivalent to | 1666 |

9418005 (Necrobiosis lipoidica) | is equivalent to | 542592 |

400953008 (Congenital tarsal kink) | is equivalent to | 99170 |

783722008 (Myopathy and diabetes mellitus) | is equivalent to | 2596 |

1251453008 (Lamb Shaffer syndrome) | is equivalent to | 530983 |

80328002 (Progressive cone-rod dystrophy) | is equivalent to | 1872 |

716022002 (Gollop syndrome) | is equivalent to | 1791 |

716197003 (Autosomal dominant pterygium of conjunctiva) | is equivalent to | 2989 |

718753002 (Episodic ataxia type 6) | is equivalent to | 209967 |

725145002 (Atrial septal defect, atrioventricular conduction defect syndrome) | is equivalent to | 1479 |

720429007 (Acrofacial dysostosis Palagonia type) | is equivalent to | 1787 |

26682008 (Homozygous beta thalassemia) | is equivalent to | 231214 |

719833004 (Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome) | is equivalent to | 73246 |

1268719004 (Primary anaplastic astrocytoma of central nervous system) | is equivalent to | 251589 |

48250002 (Gaisbock's syndrome) | is equivalent to | 90041 |

7305005 (Coarctation of aorta) | is equivalent to | 1457 |

724207001 (Kleefstra syndrome) | is equivalent to | 261494 |

1268906006 (Primary Klatskin tumour) | is equivalent to | 99978 |

237886009 (Familial idiopathic hypercalciuria) | is equivalent to | 2197 |

782941005 (Richieri Costa-da Silva syndrome) | is equivalent to | 3101 |

773281008 (Thakker Donnai syndrome) | is equivalent to | 1780 |

787175002 (ANK3-related intellectual disability, sleep disturbance syndrome) | is equivalent to | 356996 |

1187120008 (Stromme syndrome) | is equivalent to | 506307 |

1187619001 (Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect) | is equivalent to | 521411 |

771340007 (15q11.2 microdeletion syndrome) | is equivalent to | 261183 |

702363009 (Cold-induced sweating syndrome) | is equivalent to | 157820 |

254066006 (Wolcott-Rallison dysplasia) | is equivalent to | 1667 |

787092009 (Secondary non-traumatic avascular necrosis of bone) | is equivalent to | 399180 |

240062007 (Ullrich congenital muscular dystrophy) | is equivalent to | 75840 |

718210003 (Brunner syndrome) | is equivalent to | 3057 |

724179008 (Laron syndrome with immunodeficiency) | is equivalent to | 220465 |

55602000 (Nezelof's syndrome) | is equivalent to | 83471 |

1172633003 (Camptodactyly syndrome Guadalajara type 3) | is equivalent to | 488434 |

1234830005 (14q32 duplication syndrome) | is equivalent to | 488280 |

722478008 (Skeletal dysplasia with intellectual disability syndrome) | is equivalent to | 1436 |

782722002 (Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome) | is equivalent to | 404476 |

410502007 (Juvenile idiopathic arthritis) | is equivalent to | 92 |

766719006 (Paternal uniparental disomy of chromosome 1) | is equivalent to | 251004 |

765216006 (Audiogenic epilepsy) | is equivalent to | 166415 |

253732001 (Totally absent pericardium) | is equivalent to | 99129 |

65399007 (Langerhans cell histiocytosis) | is equivalent to | 389 |

718713000 (Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome) | is equivalent to | 91130 |

35031005 (Hanhart's syndrome) | is equivalent to | 989 |

770902008 (Distal monosomy 12p) | is equivalent to | 280325 |

2772003 (Acquired epidermolysis bullosa) | is equivalent to | 46487 |

70065001 (Fetal hydantoin syndrome) | is equivalent to | 1912 |

770896003 (MITF-related melanoma and renal cell carcinoma predisposition syndrome) | is equivalent to | 293822 |

1228861004 (Kaposiform lymphangiomatosis) | is equivalent to | 464329 |

1208478005 (Familial infantile bilateral striatal necrosis) | is equivalent to | 225154 |

192976002 (Progressive supranuclear palsy) | is equivalent to | 683 |

1229941002 (Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency) | is equivalent to | 169157 |

254962005 (Functionless pituitary adenoma) | is equivalent to | 91349 |

53593008 (Folliculitis decalvans) | is equivalent to | 346 |

773414009 (Autosomal recessive intermediate Charcot-Marie-Tooth disease type C) | is equivalent to | 369867 |

1208513005 (Spinocerebellar ataxia type 42) | is equivalent to | 458803 |

31401003 (Bicornuate uterus) | is equivalent to | 180134 |

716868003 (Multicentric osteolysis nodulosis arthropathy spectrum) | is equivalent to | 371428 |

774150004 (Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome) | is equivalent to | 397927 |

766717008 (Multiple epiphyseal dysplasia due to collagen 9 anomaly) | is equivalent to | 166002 |

702342007 (3-M syndrome) | is equivalent to | 2616 |

397015000 (Systemic mastocytosis with associated clonal hematological non-mast cell lineage disease) | is equivalent to | 98849 |

1208602000 (Pneumonia caused by Pseudomonas aeruginosa) | is equivalent to | 90066 |

1268642000 (Primary renal medullary carcinoma) | is equivalent to | 319319 |

778021002 (Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome) | is equivalent to | 251279 |

1231283007 (Congenital isolated adrenocorticotropic hormone deficiency) | is equivalent to | 199296 |

65880007 (X-linked agammaglobulinemia) | is equivalent to | 47 |

237984008 (Neurogenic muscle weakness, ataxia and retinitis pigmentosa) | is equivalent to | 644 |

717187000 (Boichis syndrome) | is equivalent to | 84081 |

1222677008 (Interstitial lung disease due to surfactant protein C deficiency) | is equivalent to | 440392 |

254007004 (Paramedian facial cleft - Tessier cleft 1) | is equivalent to | 141242 |

66489009 (Congenital absence of lung) | is equivalent to | 984 |

389272007 (Carpotarsal osteochondromatosis) | is equivalent to | 2767 |

1237623009 (Congenital insensitivity to pain with severe intellectual disability) | is equivalent to | 453510 |

1172704005 (High grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements) | is equivalent to | 480541 |

240453002 (Oroya fever) | is equivalent to | 64692 |

718631006 (Annular epidermolytic ichthyosis) | is equivalent to | 281139 |

253401003 (Absent mitral leaflets) | is equivalent to | 99060 |

1268965008 (Primary anaplastic ependymoma of central nervous system) | is equivalent to | 251646 |

784347002 (Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome) | is equivalent to | 254343 |

723309006 (Endocrine-cerebro-osteodysplasia syndrome) | is equivalent to | 199332 |

19726003 (Cutis laxa, acquired type) | is equivalent to | 228285 |

716653001 (Neuroendocrine carcinoma of thymus) | is equivalent to | 99869 |

50749006 (Double Y syndrome) | is equivalent to | 8 |

268025003 (Juvenile osteochondrosis of capitulum of humerus) | is equivalent to | 97336 |

721222007 (Hirschsprung disease with type D brachydactyly syndrome) | is equivalent to | 2150 |

712989008 (Phyllodes tumor of breast) | is equivalent to | 180261 |

5262007 (Spinal muscular atrophy) | is equivalent to | 70 |

717812000 (Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome) | is equivalent to | 1369 |

725432008 (Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency) | is equivalent to | 319574 |

55711009 (Arthrochalasia Ehlers-Danlos syndrome) | is equivalent to | 1899 |

1187040004 (Familial steroid-resistant nephrotic syndrome with adrenal insufficiency) | is equivalent to | 506334 |

784370005 (Mitochondrial myopathy with reversible cytochrome C oxidase deficiency) | is equivalent to | 254864 |

230306001 (Benign hereditary chorea) | is equivalent to | 1429 |

733087007 (Polydactyly myopia syndrome) | is equivalent to | 2917 |

80773006 (Escobar syndrome) | is equivalent to | 2990 |

193410003 (Sorsby pseudoinflammatory fundus dystrophy) | is equivalent to | 59181 |

253590009 (Pulmonary atresia with intact ventricular septum) | is equivalent to | 1208 |

124302001 (Deficiency of galactokinase) | is equivalent to | 79237 |

721229003 (Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome) | is equivalent to | 2180 |

34748004 (Adams-Oliver syndrome) | is equivalent to | 974 |

400080004 (Porokeratosis) | is equivalent to | 79358 |

718914002 (X-linked intellectual disability Van Esch type) | is equivalent to | 163976 |

720958002 (Frank-Ter Haar syndrome) | is equivalent to | 137834 |

1268699008 (Primary pilomatrix carcinoma of skin) | is equivalent to | 499182 |

59051007 (Cysticercosis) | is equivalent to | 1560 |

785302009 (Adult-onset autosomal recessive cerebellar ataxia) | is equivalent to | 284289 |

763069002 (Autosomal dominant spastic paraplegia type 41) | is equivalent to | 320355 |

725408001 (Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2) | is equivalent to | 64753 |

62985007 (Hereditary insensitivity to pain with anhidrosis) | is equivalent to | 642 |

1234822009 (Idiopathic ductopenia) | is equivalent to | 480512 |

723581006 (STAR syndrome) | is equivalent to | 140952 |

254939008 (Ependymoma of brain) | is equivalent to | 301 |

764622004 (Mosaic trisomy 17 syndrome) | is equivalent to | 1711 |

65327002 (Mucopolysaccharidosis, MPS-I-H) | is equivalent to | 93473 |

782745008 (Lipoyl transferase 1 deficiency) | is equivalent to | 401862 |

722378009 (Congenital cataract with deafness and hypogonadism syndrome) | is equivalent to | 1383 |

205402004 (Arthrogryposis multiplex congenita) | is equivalent to | 1037 |

771514002 (Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome) | is equivalent to | 352654 |

773670004 (Distal Xq28 microduplication syndrome) | is equivalent to | 293939 |

783737007 (Hirschsprung disease, ganglioneuroblastoma syndrome) | is equivalent to | 2151 |

230558006 (Hereditary liability to pressure palsies) | is equivalent to | 640 |

1268698000 (Primary solid pseudopapillary carcinoma of pancreas) | is equivalent to | 424065 |

724282009 (Hypoparathyroidism, deafness, renal disease syndrome) | is equivalent to | 2237 |

91861009 (Acute myeloid leukemia, disease) | is equivalent to | 519 |

40956001 (Guillain-Barré syndrome) | is equivalent to | 2103 |

766871009 (Diencephalic mesencephalic junction dysplasia) | is equivalent to | 319192 |

718180000 (Autosomal recessive limb girdle muscular dystrophy type 2I) | is equivalent to | 34515 |

720747002 (Cooks syndrome) | is equivalent to | 1487 |

782692004 (Maternal uniparental disomy of chromosome 22) | is equivalent to | 96188 |

447792005 (Chondrosarcoma of bone) | is equivalent to | 55880 |

80321008 (Mesangiocapillary glomerulonephritis) | is equivalent to | 54370 |

726620005 (Arthrogryposis hyperkeratosis syndrome lethal form) | is equivalent to | 1485 |

763527007 (Distal monosomy 13q syndrome) | is equivalent to | 1590 |

73123008 (Mucopolysaccharidosis, MPS-I-S) | is equivalent to | 93474 |

310701003 (Behcet's syndrome) | is equivalent to | 117 |

722475006 (X-linked congenital dyserythropoietic anemia with thrombocytopenia) | is equivalent to | 67044 |

718717004 (Primary immunodeficiency syndrome due to p14 deficiency) | is equivalent to | 90023 |

255038009 (Growth hormone releasing factor-secreting tumor) | is equivalent to | 97261 |

725033008 (Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement) | is equivalent to | 31043 |

58588007 (Cutis laxa) | is equivalent to | 209 |

1169365006 (Aquagenic palmoplantar keratoderma) | is equivalent to | 498359 |

722110003 (Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome) | is equivalent to | 2773 |

726703000 (Digestive duplication cyst of tongue) | is equivalent to | 141071 |

763755009 (Dislocation of hip and facial dysmorphism syndrome) | is equivalent to | 2412 |

205329008 (Humeroradial synostosis) | is equivalent to | 3265 |

1187251009 (Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome) | is equivalent to | 466921 |

724644005 (Myeloid leukemia associated with Down syndrome) | is equivalent to | 99887 |

1222675000 (Primary desmosis coli) | is equivalent to | 565641 |

54280009 (Kugelberg-Welander disease) | is equivalent to | 83419 |

787094005 (Segmental progressive overgrowth syndrome with fibroadipose hyperplasia) | is equivalent to | 314662 |

719047001 (14q11.2 microdeletion syndrome) | is equivalent to | 261120 |

770680004 (Prader-Willi-like syndrome) | is equivalent to | 398073 |

763409006 (Rhabdomyosarcoma of corpus uteri) | is equivalent to | 213615 |

254018004 (Infraorbital facial cleft - Tessier cleft 6) | is equivalent to | 141265 |

726032008 (Short rib polydactyly syndrome Saldino Noonan type) | is equivalent to | 93270 |

76902006 (Tetanus) | is equivalent to | 3299 |

709075008 (Aromatase excess syndrome) | is equivalent to | 178345 |

732959007 (Beta-propeller protein-associated neurodegeneration) | is equivalent to | 329284 |

773331001 (Nestor Guillermo progeria syndrome) | is equivalent to | 280576 |

719684000 (8q12 microduplication syndrome) | is equivalent to | 228399 |

717232005 (Caroli disease) | is equivalent to | 53035 |

266152000 (Deep seated dermatophytosis) | is equivalent to | 397587 |

254052001 (Type IV short rib polydactyly syndrome) | is equivalent to | 93268 |

699688008 (Generalized epilepsy with febrile seizures plus) | is equivalent to | 36387 |

763533003 (Distal hereditary motor neuropathy Jerash type) | is equivalent to | 139552 |

33313004 (Radioulnar synostosis) | is equivalent to | 3269 |

1208483002 (Primary choriocarcinoma of central nervous system) | is equivalent to | 252015 |

1268541001 (Primary squamous cell carcinoma of liver and intrahepatic biliary tract) | is equivalent to | 424975 |

720852000 (Cervical hypertrichosis and peripheral neuropathy syndrome) | is equivalent to | 2218 |

75387001 (Transient neonatal hypertyrosinemia) | is equivalent to | 3402 |

720418008 (Acrocraniofacial dysostosis) | is equivalent to | 949 |

783556000 (Severe early-onset obesity insulin resistance syndrome due to SH2B1 deficiency) | is equivalent to | 329249 |

715748006 (Spinocerebellar ataxia type 1) | is equivalent to | 98755 |

399040002 (Congenital central hypoventilation) | is equivalent to | 661 |

74942003 (Echinococcosis) | is equivalent to | 400 |

773985008 (Peripheral dysostosis) | is equivalent to | 1795 |

1187126002 (ITM2B-related amyloidosis) | is equivalent to | 439254 |

44145005 (Benign Rolandic epilepsy) | is equivalent to | 1945 |

717821004 (Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency) | is equivalent to | 263297 |

719140001 (Prieto Badia Mulas syndrome) | is equivalent to | 2958 |

771477003 (15q overgrowth syndrome) | is equivalent to | 314585 |

770787005 (Benign Samaritan congenital myopathy) | is equivalent to | 324581 |

722439009 (EDICT syndrome) | is equivalent to | 293936 |

720458005 (Acrorenal syndrome) | is equivalent to | 971 |

62578003 (Congenital defect of folate absorption) | is equivalent to | 90045 |

768473009 (PURA syndrome) | is equivalent to | 438213 |

389273002 (Cherubism with gingival fibromatosis) | is equivalent to | 3019 |

1197217007 (Multiple paraganglioma associated with polycythemia) | is equivalent to | 324299 |

763668009 (Lichtenstein syndrome) | is equivalent to | 2390 |

1251447008 (NAD(P)HX epimerase deficiency) | is equivalent to | 555407 |

118609008 (Hodgkin's disease, mixed cellularity (clinical)) | is equivalent to | 98844 |

719666002 (6q terminal deletion syndrome) | is equivalent to | 75857 |

1229871006 (Primary squamous cell carcinoma of nasal cavity and paranasal sinus) | is equivalent to | 500464 |

239054009 (Reticulate pigmented anomaly of flexures) | is equivalent to | 79145 |

191010004 (Common variable immunodeficiency) | is equivalent to | 1572 |

416402001 (Gestational trophoblastic disease) | is equivalent to | 254685 |

719512003 (Autosomal dominant Charcot-Marie-Tooth disease type 2K) | is equivalent to | 99944 |

1268638003 (Primary adenosarcoma of cervix uteri) | is equivalent to | 213792 |

230466004 (Alternating hemiplegia of childhood) | is equivalent to | 2131 |

1187252002 (Autosomal dominant thrombocytopenia with platelet secretion defect) | is equivalent to | 466806 |

783014007 (Panniculitis induced localized lipodystrophy) | is equivalent to | 90159 |

770724001 (Autosomal recessive spastic paraplegia type 70) | is equivalent to | 401835 |

721072003 (Short stature, pituitary and cerebellar defect and small sella turcica syndrome) | is equivalent to | 85442 |

111303009 (Sjögren-Larsson syndrome) | is equivalent to | 816 |

49748000 (SSADH (succinic semialdehyde dehydrogenase) deficiency) | is equivalent to | 22 |

253337009 (Isomerism of left atrial appendage) | is equivalent to | 566862 |

783010003 (Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome) | is equivalent to | 231426 |

722433005 (Dyschondrosteosis and nephritis syndrome) | is equivalent to | 1765 |

1279890001 (Multiple mitochondrial dysfunctions syndrome type 5) | is equivalent to | 569274 |

764466009 (Mosaic trisomy 14 syndrome) | is equivalent to | 1703 |

716650003 (Peritoneal cystic mesothelioma) | is equivalent to | 168816 |

720603002 (Camptodactyly syndrome Guadalajara type 2) | is equivalent to | 1326 |

724385009 (Growth delay due to insulin-like growth factor type 1 deficiency) | is equivalent to | 73272 |

124432005 (Deficiency of phosphoserine phosphatase) | is equivalent to | 79350 |

11389007 (Inhalational anthrax) | is equivalent to | 247257 |

1269043000 (Primary malignant rhabdoid tumour) | is equivalent to | 69077 |

34643004 (Diaphyseal dysplasia) | is equivalent to | 1328 |

1237470001 (Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome) | is equivalent to | 444069 |

403468003 (Squamous cell carcinoma of penis) | is equivalent to | 398058 |

770629000 (Distal 17p13.1 microdeletion syndrome) | is equivalent to | 319171 |

778030005 (Autosomal recessive spastic paraplegia type 27) | is equivalent to | 101007 |

1186869002 (Neuroendocrine carcinoma of pancreas) | is equivalent to | 506098 |

720612000 (Cardiospondylocarpofacial syndrome) | is equivalent to | 3238 |

448254007 (Non-Hodgkin's lymphoma of central nervous system) | is equivalent to | 46135 |

442917000 (Familial long QT syndrome) | is equivalent to | 768 |

254887002 (Adenocarcinoma of cervix) | is equivalent to | 213772 |

764950001 (Cryptorchidism, arachnodactyly, intellectual disability syndrome) | is equivalent to | 1548 |

1222705009 (Familial multiple discoid fibroma) | is equivalent to | 538756 |

770405003 (Benign familial mesial temporal lobe epilepsy) | is equivalent to | 163717 |

64540004 (Lichen planopilaris) | is equivalent to | 525 |

1279831004 (Congenital insensitivity to pain, anosmia, neuropathic arthropathy) | is equivalent to | 88642 |

89454001 (Shwachman syndrome) | is equivalent to | 811 |

722031003 (Kapur Toriello syndrome) | is equivalent to | 2328 |

1268702001 (Primary choroid plexus carcinoma) | is equivalent to | 251899 |

722290008 (Autoimmune lymphoproliferative syndrome with recurrent viral infection) | is equivalent to | 275517 |

1231169000 (Congenital anomaly of second branchial cleft) | is equivalent to | 141022 |

237982007 (Lactate dehydrogenase deficiency) | is equivalent to | 2364 |

446263001 (Loeys-Dietz syndrome) | is equivalent to | 60030 |

715905006 (Unilateral polymicrogyria) | is equivalent to | 268943 |

778051008 (Focal palmoplantar keratoderma with joint keratoses) | is equivalent to | 370002 |

1268351001 (Primary clear cell carcinoma of kidney) | is equivalent to | 319276 |

237911005 (Disorder of amino acid and organic acid metabolism) | is equivalent to | 79062 |

723411003 (Nasopalpebral lipoma coloboma syndrome) | is equivalent to | 2399 |

63741006 (Fungal infection of lung) | is equivalent to | 217080 |

205497004 (Osteogenesis imperfecta with normal sclerae, dominant form) | is equivalent to | 216820 |

763318007 (Connective tissue disorder due to lysyl hydroxylase-3 deficiency) | is equivalent to | 300284 |

109419009 (Mandibuloacral dysostosis) | is equivalent to | 2457 |

37471005 (Extrinsic allergic alveolitis) | is equivalent to | 31740 |

128200000 (Complex regional pain syndrome) | is equivalent to | 83452 |

35111009 (Trisomy X syndrome) | is equivalent to | 3375 |

93451002 (Erythroleukemia, FAB M6) | is equivalent to | 318 |

721881008 (Microduplication Xp11.22p11.23 syndrome) | is equivalent to | 217377 |

764734003 (Autosomal recessive spastic paraplegia type 21) | is equivalent to | 101001 |

771302009 (Autosomal recessive lower motor neuron disease with childhood onset) | is equivalent to | 206580 |

773774000 (High-grade neuroendocrine carcinoma of corpus uteri) | is equivalent to | 213731 |

715736008 (Paternal uniparental disomy of chromosome 20) | is equivalent to | 96194 |

715828006 (Proboscis lateralis) | is equivalent to | 141099 |

238949006 (Acral persistent papular mucinosis) | is equivalent to | 90396 |

253640002 (Ascending aorta abnormality) | is equivalent to | 98725 |

8214000 (Telangiectasia macularis eruptiva perstans) | is equivalent to | 90389 |

782724001 (Multisystemic smooth muscle dysfunction syndrome) | is equivalent to | 404463 |

1237578005 (Primary oculocerebral non-Hodgkin lymphoma) | is equivalent to | 279897 |

1144934003 (Recurrent infection due to specific granule deficiency) | is equivalent to | 169142 |

699676006 (Infection by Microsporidia) | is equivalent to | 2552 |

764999002 (Non-functioning paraganglioma) | is equivalent to | 94080 |

724070005 (Paternal 20q13.2q13.3 microdeletion syndrome) | is equivalent to | 261304 |

254167000 (Bullous ichthyosiform erythroderma) | is equivalent to | 312 |

764962002 (Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1) | is equivalent to | 137681 |

75702008 (Brucellosis) | is equivalent to | 1304 |

429054002 (Disorder related to transplantation) | is equivalent to | 306644 |

41514002 (Congenital supravalvular mitral stenosis) | is equivalent to | 99059 |

238070003 (Glutaryl-CoA oxidase deficiency) | is equivalent to | 35706 |

1279884000 (POMGNT2-related limb girdle muscular dystrophy R24) | is equivalent to | 565899 |

240626005 (Human ehrlichiosis) | is equivalent to | 1902 |

720856002 (Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome) | is equivalent to | 1897 |

239945009 (Hypocomplementemic urticarial vasculitis) | is equivalent to | 36412 |

71253000 (Tay-Sachs disease, variant AB) | is equivalent to | 309246 |

447058001 (Solitary necrotic nodule of liver) | is equivalent to | 100035 |

1197364005 (Idiopathic spontaneous coronary artery dissection) | is equivalent to | 458718 |

719582007 (17p13.3 microduplication syndrome) | is equivalent to | 217385 |

770907002 (Kagami Ogata syndrome) | is equivalent to | 254519 |

763186006 (Grubben, De Cock, Borghgraef syndrome) | is equivalent to | 2101 |

204134008 (Coloboma of lens) | is equivalent to | 98943 |

129639005 (Hereditary neutrophilia) | is equivalent to | 279943 |

196286005 (Dentinogenesis imperfecta) | is equivalent to | 49042 |

778027003 (Primary CD59 deficiency) | is equivalent to | 169464 |

254867003 (Gynandroblastoma of ovary) | is equivalent to | 99914 |

86188000 (Kuru) | is equivalent to | 454745 |

1162828001 (X-linked lymphoproliferative disease due to SH2D1A deficiency) | is equivalent to | 538931 |

770903003 (Postorgasmic illness syndrome) | is equivalent to | 279947 |

68913001 (Alpha thalassemia) | is equivalent to | 846 |

1255269005 (Hypothalamic adipsic hypernatraemia syndrome) | is equivalent to | 443101 |

1230303001 (Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease) | is equivalent to | 439854 |

1222678003 (Interstitial lung disease due to ABCA3 deficiency) | is equivalent to | 440402 |

13144005 (Methylcrotonyl-CoA carboxylase deficiency) | is equivalent to | 6 |

1197157004 (Severe congenital nemaline myopathy) | is equivalent to | 171430 |

726619004 (Ptosis, strabismus, ectopic pupil syndrome) | is equivalent to | 2999 |

386766007 (Marchiafava-Bignami disease) | is equivalent to | 221074 |

204152008 (Axenfeld anomaly) | is equivalent to | 98978 |

95501007 (Retinal arteriovenous malformation) | is equivalent to | 353334 |

773666007 (Hypoinsulinemic hypoglycemia and body hemihypertrophy) | is equivalent to | 293964 |

770947009 (Autosomal dominant severe congenital neutropenia) | is equivalent to | 486 |

36601008 (Craniometaphyseal dysplasia) | is equivalent to | 1522 |

765187004 (Stiff skin syndrome) | is equivalent to | 2833 |

703406006 (Trichohepatoenteric syndrome) | is equivalent to | 84064 |

718188007 (8p inverted duplication deletion syndrome) | is equivalent to | 96092 |

14447001 (Dandy-Walker syndrome) | is equivalent to | 217 |

253269002 (Criss-cross heart) | is equivalent to | 1461 |

718182008 (Combined pituitary hormone deficiency genetic form) | is equivalent to | 95494 |

418470004 (Porphyria) | is equivalent to | 738 |

19346006 (Marfan's syndrome) | is equivalent to | 558 |

774065001 (FLOTCH syndrome) | is equivalent to | 2045 |

218728005 (Interrupted aortic arch) | is equivalent to | 2299 |

28557005 (Geleophysic dysplasia) | is equivalent to | 2623 |

720981000 (Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome) | is equivalent to | 1014 |

763352005 (Familial dyskinesia and facial myokymia) | is equivalent to | 324588 |

783177006 (Congenital hypothyroidism due to maternal intake of antithyroid drug) | is equivalent to | 226313 |

702439002 (Andermann syndrome) | is equivalent to | 1496 |

87211000119104 (Dysembryoplastic neuroepithelial tumor) | is equivalent to | 251946 |

717010007 (Autosomal dominant Charcot-Marie-Tooth disease type 2C) | is equivalent to | 99937 |

403977003 (Angiosarcoma) | is equivalent to | 263413 |

766815007 (Perioral myoclonia with absences) | is equivalent to | 139426 |

783696009 (Hyperandrogenism due to cortisone reductase deficiency) | is equivalent to | 168588 |

14683004 (Relapsing fever caused by Borrelia recurrentis) | is equivalent to | 91547 |

763624007 (Syndactyly type 6) | is equivalent to | 295012 |

232330007 (Recessive sensorineural hearing loss) | is equivalent to | 90636 |

782915004 (Acquired hemophagocytic lymphohistiocytosis associated with malignant disease) | is equivalent to | 158057 |

254122007 (Osteopetrosis with renal tubular acidosis) | is equivalent to | 2785 |

1260241001 (Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta) | is equivalent to | 566243 |

773280009 (Hydrocephalus, blue sclera, nephropathy syndrome) | is equivalent to | 2186 |

765761009 (Brachydactyly, mesomelia, intellectual disability, heart defect syndrome) | is equivalent to | 1277 |

398071000 (Epidermolysis bullosa simplex, Ogna type) | is equivalent to | 79401 |

1229942009 (Severe combined immunodeficiency due to CORO1A deficiency) | is equivalent to | 228003 |

718577005 (Atkin Flaitz syndrome) | is equivalent to | 1193 |

84625002 (Acute febrile neutrophilic dermatosis) | is equivalent to | 3243 |

237653008 (Familial hyperparathyroidism) | is equivalent to | 2207 |

702407009 (McKusick Kaufman syndrome) | is equivalent to | 2473 |

23876003 (Congenital dislocation of shoulder) | is equivalent to | 295030 |

715656004 (Aplasia of lacrimal and salivary gland) | is equivalent to | 86815 |

8712002 (Congenital subaortic stenosis due to fibromuscular shelf) | is equivalent to | 3092 |

3755001 (Pityriasis rubra pilaris) | is equivalent to | 2897 |

448216007 (Carcinoma of thyroid) | is equivalent to | 100088 |

871597006 (Congenital dysplasia of aortic valve) | is equivalent to | 101043 |

1222710008 (Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome) | is equivalent to | 453499 |

771262009 (Pseudoleprechaunism syndrome Patterson type) | is equivalent to | 2976 |

204808002 (Congenital pancreatic cyst) | is equivalent to | 313906 |

75238000 (Mucopolysaccharidosis, MPS-III-C) | is equivalent to | 79271 |

722075004 (Oro-facial digital syndrome type 10) | is equivalent to | 2756 |

766986002 (Acute adrenal insufficiency) | is equivalent to | 95409 |

37054000 (Congenital atresia of colon) | is equivalent to | 1198 |

57725006 (Balantidiasis) | is equivalent to | 1223 |

783176002 (Congenital muscular dystrophy with cerebellar involvement) | is equivalent to | 370959 |

413936007 (Currarino triad) | is equivalent to | 1552 |

719257008 (Lathosterolosis) | is equivalent to | 46059 |

732953008 (Ectodermal dysplasia and sensorineural deafness syndrome) | is equivalent to | 1883 |

1172585006 (MME-related autosomal dominant Charcot Marie Tooth disease type 2) | is equivalent to | 497757 |

721313009 (Indeterminate dendritic cell neoplasm) | is equivalent to | 158019 |

782674007 (Distal monosomy 7p syndrome) | is equivalent to | 96126 |

719019000 (WT limb blood syndrome) | is equivalent to | 3466 |

254976006 (Optic nerve glioma) | is equivalent to | 2086 |

398197009 (Congenital choledochal cyst) | is equivalent to | 480501 |

715465001 (Bedouin spastic ataxia syndrome) | is equivalent to | 2572 |

254782003 (Multiple progressive hemangiomata) | is equivalent to | 2123 |

725393000 (Autosomal dominant primary hypomagnesemia with hypocalciuria) | is equivalent to | 34528 |

234146006 (Hennekam syndrome) | is equivalent to | 2136 |

95462004 (Anomaly of sex chromosome) | is equivalent to | 98155 |

404072004 (Dedifferentiated liposarcoma) | is equivalent to | 99970 |

723624008 (SLC35A1 congenital disorder of glycosylation) | is equivalent to | 238459 |

763404001 (Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome) | is equivalent to | 2269 |

715484003 (Ophthalmomandibulomelic dysplasia) | is equivalent to | 2741 |

1237225007 (Dermatosparaxis Ehlers-Danlos syndrome) | is equivalent to | 1901 |

409563004 (Intestinal botulism) | is equivalent to | 178481 |

763796007 (Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)) | is equivalent to | 402023 |

725904009 (Genochondromatosis type 2) | is equivalent to | 93398 |

770751003 (Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome) | is equivalent to | 369939 |

719663005 (6q25 microdeletion syndrome) | is equivalent to | 251056 |

7259005 (Mucopolysaccharidosis, MPS-IV-A) | is equivalent to | 309297 |

419097006 (Danon disease) | is equivalent to | 34587 |

240849009 (Mansonelliasis) | is equivalent to | 2459 |

716773002 (Familial idiopathic dilatation of right atrium) | is equivalent to | 1677 |

699756005 (Segmental odontomaxillary dysplasia) | is equivalent to | 67039 |

724650000 (Primary follicular dendritic cell sarcoma) | is equivalent to | 86902 |

783003009 (Thoracomelic dysplasia) | is equivalent to | 1803 |

718689000 (Distal trisomy 10q) | is equivalent to | 96102 |

48611009 (Darier disease) | is equivalent to | 218 |

763669001 (Spastic ataxia with congenital miosis) | is equivalent to | 1182 |

720517001 (Ataxia with deafness and intellectual disability syndrome) | is equivalent to | 1188 |

723131006 (Megalopapilla) | is equivalent to | 519402 |

718850008 (Autosomal recessive limb girdle muscular dystrophy type 2E) | is equivalent to | 119 |

401138005 (Pena-Shokeir syndrome type I) | is equivalent to | 994 |

719249005 (Spinocerebellar ataxia type 17) | is equivalent to | 98759 |

1222671009 (3-methylglutaconic aciduria type 8) | is equivalent to | 505208 |

763620003 (Trichodermodysplasia and dental alterations syndrome) | is equivalent to | 3353 |

770760006 (16q24.1 microdeletion syndrome) | is equivalent to | 352629 |

75979009 (Johanson-Blizzard syndrome) | is equivalent to | 2315 |

124177001 (Deficiency of pyrroline-5-carboxylate reductase) | is equivalent to | 293633 |

764939004 (Fundus albipunctatus) | is equivalent to | 227796 |

1204420006 (Chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis) | is equivalent to | 324964 |

255071008 (Squamous cell carcinoma of lip) | is equivalent to | 502366 |

1279832006 (Acute occlusion of peripheral artery due to thrombosis) | is equivalent to | 90064 |

277796003 (Granulomatous slack skin disease) | is equivalent to | 33111 |

1187039001 (Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome) | is equivalent to | 508476 |

717013009 (Autosomal dominant Charcot-Marie-Tooth disease type 2I) | is equivalent to | 99942 |

234388009 (Delta-beta-Lepore thalassemia) | is equivalent to | 330032 |

720599002 (Campomelia Cumming type) | is equivalent to | 1318 |

1237366005 (Aprosencephaly cerebellar dysgenesis) | is equivalent to | 1126 |

782757004 (Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome) | is equivalent to | 391376 |

238775002 (Idiopathic livedo reticularis with summer ulceration) | is equivalent to | 542643 |

715771008 (Colobomatous microphthalmia) | is equivalent to | 98938 |

773737004 (NPHP3-related Meckel-like syndrome) | is equivalent to | 3032 |

7119001 (Cutaneous lupus erythematosus) | is equivalent to | 535 |

770663003 (Tetrasomy 11q24.1) | is equivalent to | 289522 |

715627004 (Primary progressive freezing gait) | is equivalent to | 75567 |

763376002 (Autosomal recessive spastic paraplegia type 28) | is equivalent to | 101008 |

270889005 (Deletion of long arm of chromosome 18) | is equivalent to | 1600 |

733638006 (Acral dystrophic epidermolysis bullosa) | is equivalent to | 158673 |

766813000 (Trichoodontoonychial dysplasia) | is equivalent to | 3355 |

205330003 (Humeroulnar synostosis) | is equivalent to | 94056 |

703504006 (Congenital reticular ichthyosiform erythroderma) | is equivalent to | 281190 |

89597008 (Glycogen storage disease, type VII) | is equivalent to | 371 |

722381004 (Crome syndrome) | is equivalent to | 1380 |

88860002 (Pneumocystosis) | is equivalent to | 723 |

783764008 (Autosomal recessive spastic paraplegia type 56) | is equivalent to | 320411 |

773556006 (Short ulna, dysmorphism, hypotonia, intellectual disability syndrome) | is equivalent to | 357175 |

763717004 (Sporadic fetal brain disruption sequence) | is equivalent to | 1665 |

718763005 (Spondyloepiphyseal dysplasia MacDermot type) | is equivalent to | 163668 |

10007009 (Coffin-Siris syndrome) | is equivalent to | 1465 |

19092004 (Holt-Oram syndrome) | is equivalent to | 392 |

66758006 (Acrodysostosis) | is equivalent to | 950 |

721234004 (Hyperinsulinism due to HNF1A deficiency) | is equivalent to | 324575 |

717329009 (Inflammatory pseudotumor of liver) | is equivalent to | 90003 |

771235001 (Vasoproliferative tumor of retina) | is equivalent to | 353356 |

424114000 (Nephrogenic systemic fibrosis) | is equivalent to | 137617 |

698846009 (Tibial muscular dystrophy) | is equivalent to | 609 |

237699005 (Post-traumatic hypopituitarism) | is equivalent to | 95619 |

771338002 (Parietal foramina with clavicular hypoplasia) | is equivalent to | 251290 |

118608000 (Hodgkin's disease, nodular sclerosis (clinical)) | is equivalent to | 98843 |

88923002 (Progressive muscular atrophy) | is equivalent to | 454706 |

703534001 (Char syndrome) | is equivalent to | 46627 |

778012003 (Temple syndrome) | is equivalent to | 254516 |

763065008 (Ataxia telangiectasia variant) | is equivalent to | 370109 |

721087008 (Deafness and intellectual disability Martin Probst type syndrome) | is equivalent to | 85321 |

773492007 (Childhood-onset spasticity with hyperglycinemia) | is equivalent to | 401866 |

1251448003 (Polyclonal hyperviscosity syndrome) | is equivalent to | 450322 |

1187617004 (Charcot-Marie-Tooth disease type 2S) | is equivalent to | 443073 |

1172603005 (Infantile-onset generalized dyskinesia with orofacial involvement) | is equivalent to | 494526 |

787093004 (Developmental delay, facial dysmorphism syndrome due to MED13L deficiency) | is equivalent to | 369891 |

254065005 (Progressive pseudorheumatoid dysplasia) | is equivalent to | 1159 |

715535009 (Naxos disease) | is equivalent to | 34217 |

1220568003 (QRICH1-related intellectual disability, chondrodysplasia syndrome) | is equivalent to | 580940 |

763132003 (Coloboma of superior eyelid) | is equivalent to | 155884 |

1179300002 (BENTA disease) | is equivalent to | 464336 |

719160009 (Syndromic X-linked intellectual disability type 7) | is equivalent to | 85274 |

75241009 (Choroideremia) | is equivalent to | 180 |

770940006 (Congenital panfollicular nevus) | is equivalent to | 139414 |

773993008 (Idiopathic macular telangiectasia type 1) | is equivalent to | 353344 |

720635002 (Cerebro-facio-thoracic dysplasia) | is equivalent to | 1394 |

719947004 (Temtamy syndrome) | is equivalent to | 1777 |

725036000 (Familial isolated hypoparathyroidism) | is equivalent to | 2238 |

238049009 (Carbohydrate-deficient glycoprotein syndrome) | is equivalent to | 137 |

723512008 (Revesz syndrome) | is equivalent to | 3088 |

54470008 (3 beta-Hydroxysteroid dehydrogenase deficiency) | is equivalent to | 90791 |

53926002 (Plastic bronchitis) | is equivalent to | 439881 |

73692007 (Fixed drug eruption) | is equivalent to | 293812 |

1157157006 (Acute myeloid leukemia with 11q23 abnormality) | is equivalent to | 98831 |

1260449002 (Polyendocrine polyneuropathy syndrome) | is equivalent to | 453533 |

205573006 (Focal dermal hypoplasia) | is equivalent to | 2092 |

716696006 (Autosomal dominant centronuclear myopathy) | is equivalent to | 169189 |

237985009 (Pearson's syndrome) | is equivalent to | 699 |

699316006 (Myhre syndrome) | is equivalent to | 2588 |

719475006 (CLOVE syndrome) | is equivalent to | 140944 |

66451004 (Familial visceral amyloidosis, Ostertag type) | is equivalent to | 85450 |

83839005 (Acrodermatitis continua of Hallopeau) | is equivalent to | 163931 |

717003001 (Hereditary cavernous hemangioma of brain) | is equivalent to | 221061 |

109989006 (Multiple myeloma) | is equivalent to | 29073 |

14901003 (Ankylosis of tooth) | is equivalent to | 1077 |

1172628002 (TBCK-related intellectual disability syndrome) | is equivalent to | 488632 |

723557004 (Thiamine-responsive encephalopathy) | is equivalent to | 199348 |

715657008 (Familial avascular necrosis of femoral head) | is equivalent to | 86820 |

73893000 (Congenital toxoplasmosis) | is equivalent to | 858 |

783251006 (Hereditary thrombocytopenia with normal platelets) | is equivalent to | 268322 |

771308008 (Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome) | is equivalent to | 231720 |

43489008 (Crimean-Congo hemorrhagic fever) | is equivalent to | 99827 |

1208481000 (Progressive cerebello-cerebral atrophy) | is equivalent to | 247198 |

17144009 (Fibrochondrogenesis) | is equivalent to | 2021 |

715630006 (Familial progressive hyperpigmentation) | is equivalent to | 79146 |

1177169004 (Congenital cerebellar ataxia due to RNU12 mutation) | is equivalent to | 512260 |

725168006 (Aland Islands eye disease) | is equivalent to | 178333 |

460923005 (Anomalous origin of right coronary artery from left coronary artery aortic sinus) | is equivalent to | 541454 |

722125003 (Overhydrated hereditary stomatocytosis) | is equivalent to | 3203 |

720461006 (Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein) | is equivalent to | 217371 |

449731009 (Autoimmune polyendocrine syndrome type 3) | is equivalent to | 227982 |

55999004 (Encephalocele) | is equivalent to | 268817 |

373426005 (Epithelial basement membrane dystrophy) | is equivalent to | 98956 |

70694009 (Wolfram syndrome) | is equivalent to | 3463 |

784380009 (Autosomal dominant spastic ataxia type 1) | is equivalent to | 251282 |

66063001 (Regional odontodysplasia) | is equivalent to | 83450 |

69614003 (Adenosylcobalamin synthesis defect) | is equivalent to | 28 |

721158009 (Deletion 5q35) | is equivalent to | 1627 |

66751000 (Niemann-Pick disease, type C) | is equivalent to | 646 |

88264003 (Infection by larvae of Trichinella spiralis) | is equivalent to | 863 |

271020004 (Congenital absence of breast with absent nipple) | is equivalent to | 180188 |

702378002 (Hyperparathyroidism-jaw tumor syndrome) | is equivalent to | 99880 |

703193000 (Congenital malformation of dural sinus) | is equivalent to | 97339 |

763345008 (Charcot-Marie-Tooth disease type 4B3) | is equivalent to | 363981 |

725415009 (House allergic alveolitis) | is equivalent to | 99907 |

1217212009 (Mitochondrial pyruvate carrier deficiency) | is equivalent to | 447784 |

230260007 (Pure hereditary spastic paraplegia) | is equivalent to | 102012 |

718897009 (X-linked intellectual disability Seemanova type) | is equivalent to | 85323 |

721975004 (Epiphyseal dysplasia, microcephalus, nystagmus syndrome) | is equivalent to | 1824 |

204036008 (Lissencephaly) | is equivalent to | 48471 |

723825006 (Autosomal recessive spastic paraplegia type 55) | is equivalent to | 320375 |

1229882003 (11q22.2q22.3 microdeletion syndrome) | is equivalent to | 444002 |

233692000 (Cryptogenic pulmonary eosinophilia) | is equivalent to | 2902 |

723821002 (Autosomal recessive spastic paraplegia type 44) | is equivalent to | 320401 |

57219006 (Craniosynostosis syndrome) | is equivalent to | 1531 |

709282004 (Deficiency of aminoacylase 1) | is equivalent to | 137754 |

722063009 (Odonto-tricho-ungual-digito-palmar syndrome) | is equivalent to | 69082 |

49013001 (17 alpha-Hydroxyprogesterone aldolase deficiency) | is equivalent to | 443087 |

1268720005 (Primary malignant peripheral nerve sheath tumor with perineurial differentiation) | is equivalent to | 252128 |

723623002 (Southeast Asian ovalocytosis) | is equivalent to | 98868 |

778042000 (Foveal hypoplasia with presenile cataract syndrome) | is equivalent to | 2253 |

771233008 (Inflammatory myofibroblastic tumor) | is equivalent to | 178342 |

277597005 (Myelodysplastic syndrome with isolated del(5q)) | is equivalent to | 86841 |

716651004 (Leiomyosarcoma of small intestine) | is equivalent to | 104076 |

774151000 (Ferro-cerebro-cutaneous syndrome) | is equivalent to | 397922 |

1220597000 (Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome) | is equivalent to | 436245 |

783619003 (DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion) | is equivalent to | 268261 |

5387003 (Pigmented hairy epidermal nevus) | is equivalent to | 64755 |

51523009 (Congenital laryngocele) | is equivalent to | 2372 |

312956001 (Central serous chorioretinopathy) | is equivalent to | 443079 |

277575008 (T-cell acute lymphoblastic leukemia) | is equivalent to | 99861 |

715754007 (Spinocerebellar ataxia type 10) | is equivalent to | 98761 |

702312009 (Tarsal-carpal coalition syndrome) | is equivalent to | 1412 |

9723006 (Hyperphosphatasemia with bone disease) | is equivalent to | 2801 |

1197358003 (Autosomal recessive dysgenesis of anterior segment of eye) | is equivalent to | 519388 |

23132008 (AL amyloidosis) | is equivalent to | 85443 |

1187247007 (WAC-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome) | is equivalent to | 466943 |

1217367007 (PLAA-associated neurodevelopmental disorder) | is equivalent to | 521426 |

17827007 (Cross syndrome) | is equivalent to | 2719 |

719649004 (1q44 microdeletion syndrome) | is equivalent to | 238769 |

1172843003 (Combined oxidative phosphorylation defect type 29) | is equivalent to | 478029 |

1216941002 (Ketoacidosis due to monocarboxylate transporter-1 deficiency) | is equivalent to | 438075 |

720499004 (Aplasia cutis with myopia syndrome) | is equivalent to | 1117 |

722293005 (Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome) | is equivalent to | 314404 |

9273005 (Juvenile polyposis syndrome) | is equivalent to | 2929 |

80612004 (Leishmaniasis) | is equivalent to | 507 |

726019003 (Familial malignant melanoma of skin) | is equivalent to | 618 |

1177168007 (Autosomal recessive spastic paraplegia type 78) | is equivalent to | 513436 |

359711001 (Hereditary von Willebrand disease type 2A) | is equivalent to | 166084 |

1222676004 (Mueller Weiss syndrome) | is equivalent to | 566943 |

418186002 (Pellagra) | is equivalent to | 97352 |

55821006 (Hay-Wells syndrome of ectodermal dysplasia) | is equivalent to | 1071 |

1186711002 (GNB5-related intellectual disability, cardiac arrhythmia syndrome) | is equivalent to | 542306 |

1268956001 (Primary extramammary Paget disease of skin) | is equivalent to | 2800 |

443719001 (Leiomyosarcoma) | is equivalent to | 64720 |

785809005 (Mills syndrome) | is equivalent to | 94091 |

254846003 (Giant fibroadenoma of breast) | is equivalent to | 180267 |

721093000 (Dianzani autoimmune lymphoproliferative disease) | is equivalent to | 275523 |

725431001 (Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency) | is equivalent to | 319569 |

763061004 (20q11.2 microduplication syndrome) | is equivalent to | 363659 |

733097003 (Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome) | is equivalent to | 2278 |

763741001 (Intellectual disability, alacrima, achalasia syndrome) | is equivalent to | 289483 |

715527006 (Deafness and oligodontia syndrome) | is equivalent to | 3230 |

766976003 (Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome) | is equivalent to | 101206 |

773667003 (Hypertelorism, preauricular sinus, punctual pits, deafness syndrome) | is equivalent to | 293958 |

778050009 (Idiopathic eosinophilic myositis) | is equivalent to | 247724 |

1179299005 (NEK9-related lethal skeletal dysplasia) | is equivalent to | 464366 |

190268003 (Congenital hypothyroidism) | is equivalent to | 442 |

37109004 (Ebola virus disease) | is equivalent to | 319218 |

722449007 (Gingival fibromatosis with progressive deafness syndrome) | is equivalent to | 2027 |

12962009 (Histoplasmosis) | is equivalent to | 390 |

715755008 (Spinocerebellar ataxia type 4) | is equivalent to | 98765 |

111396008 (Chédiak-Higashi syndrome) | is equivalent to | 167 |

715431002 (Phenobarbital embryopathy) | is equivalent to | 1919 |

399933001 (Vulval intraepithelial neoplasia (VIN)) | is equivalent to | 137583 |

1186724002 (HTRA1-related autosomal dominant cerebral small vessel disease) | is equivalent to | 482077 |

1268396008 (Primary undifferentiated carcinoma of stomach) | is equivalent to | 423786 |

40122008 (Pneumoconiosis) | is equivalent to | 182098 |

389163006 (Metaphyseal chondrodysplasia, Sedaghatian type) | is equivalent to | 93317 |

1214006 (Infection by Strongyloides) | is equivalent to | 76 |

1172839002 (Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome) | is equivalent to | 478049 |

765329008 (Carbamoyl-phosphate synthetase 1 deficiency) | is equivalent to | 147 |

725392005 (Autosomal dominant striatal neurodegeneration) | is equivalent to | 228169 |

32985001 (Greig cephalopolysyndactyly syndrome) | is equivalent to | 380 |

205369009 (Congenital overgrowth of lower limb) | is equivalent to | 295051 |

75049004 (Jeune thoracic dystrophy) | is equivalent to | 474 |

722106001 (Oro-facial digital syndrome type 8) | is equivalent to | 2755 |

723551003 (Trichothiodystrophy) | is equivalent to | 33364 |

726669007 (Central nervous system calcification, deafness, tubular acidosis, anemia syndrome) | is equivalent to | 3240 |

773702002 (Sterile multifocal osteomyelitis with periostitis and pustulosis) | is equivalent to | 210115 |

715798007 (Charcot-Marie-Tooth disease type 4D) | is equivalent to | 99950 |

718719001 (Lissencephaly type 3 familial fetal akinesia sequence syndrome) | is equivalent to | 86821 |

1197430005 (QRSL1-related combined oxidative phosphorylation defect) | is equivalent to | 570491 |

1268711001 (Primary hepatoblastoma of liver) | is equivalent to | 449 |

111386004 (Homozygous porphyria cutanea tarda) | is equivalent to | 95159 |

128098009 (Scott syndrome) | is equivalent to | 806 |

1197155007 (Amish nemaline myopathy) | is equivalent to | 98902 |

193413001 (Leber's amaurosis) | is equivalent to | 65 |

764811001 (Cavitary myiasis) | is equivalent to | 165958 |

770602005 (Squamous cell carcinoma of exocrine pancreas) | is equivalent to | 424039 |

720493003 (Annular atrophic lichen planus) | is equivalent to | 254411 |

716592003 (Cerebellar liponeurocytoma) | is equivalent to | 251931 |

771234002 (Isolated bilateral hemispheric cerebellar hypoplasia) | is equivalent to | 269221 |

60743005 (Purine-nucleoside phosphorylase deficiency) | is equivalent to | 760 |

763828007 (Odonto onycho dysplasia with alopecia syndrome) | is equivalent to | 2722 |

719296002 (Posterior amorphous corneal dystrophy) | is equivalent to | 98971 |

717333002 (Congenital hypothyroidism due to transplacental passage of maternal thyroid stimulating hormone binding inhibitory antibody) | is equivalent to | 95715 |

39912006 (Hereditary spastic paraplegia) | is equivalent to | 685 |

763617006 (Primary laryngeal lymphangioma) | is equivalent to | 137926 |

763351003 (Spectrin-associated autosomal recessive cerebellar ataxia) | is equivalent to | 352403 |

238861002 (Juvenile hyaline fibromatosis) | is equivalent to | 2028 |

723306004 (Facial onset sensory and motor neuronopathy syndrome) | is equivalent to | 85162 |

719990003 (Autosomal dominant limb girdle muscular dystrophy type 1G) | is equivalent to | 55596 |

718575002 (Ablepharon macrostomia syndrome) | is equivalent to | 920 |

783055005 (Progressive myoclonic epilepsy type 5) | is equivalent to | 402082 |

724138007 (Mitochondrial myopathy with sideroblastic anemia syndrome) | is equivalent to | 2598 |

402772005 (Autosomal recessive ichthyosis) | is equivalent to | 281097 |

233855002 (Familial atrial myxoma) | is equivalent to | 615 |

725417001 (CHST3-related skeletal dysplasia) | is equivalent to | 263463 |

267613004 (Progressive cone dystrophy (without rod involvement)) | is equivalent to | 1871 |

722281001 (Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome) | is equivalent to | 83617 |

74912001 (Hemoglobin M disease) | is equivalent to | 330041 |

827117008 (Autosomal recessive progressive external ophthalmoplegia) | is equivalent to | 254886 |

719213009 (Short stature Brussels type) | is equivalent to | 2867 |

818951009 (Congenital respiratory biliary fistula) | is equivalent to | 2040 |

12876009 (Poisoning by Digitalis glycoside) | is equivalent to | 31828 |

399964004 (Fibroblastic rheumatism) | is equivalent to | 477650 |

719253007 (Spinocerebellar ataxia type 30) | is equivalent to | 211017 |

719069008 (Shprintzen Goldberg craniosynostosis syndrome) | is equivalent to | 2462 |

764625002 (Mosaic trisomy 22 syndrome) | is equivalent to | 96068 |

783702009 (X-linked intellectual disability due to GRIA3 mutations) | is equivalent to | 364028 |

722051004 (Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome) | is equivalent to | 88643 |

37821003 (Sea-blue histiocyte syndrome) | is equivalent to | 158029 |

723999009 (RHYNS syndrome) | is equivalent to | 140976 |

89114005 (Infectious secondary iridocyclitis) | is equivalent to | 279922 |

719018008 (X-linked intellectual disability Abidi type) | is equivalent to | 85273 |

733630004 (Deficiency of alpha-ketoglutarate dehydrogenase) | is equivalent to | 31 |

733606001 (Summitt syndrome) | is equivalent to | 3210 |

52713000 (Infantile neuroaxonal dystrophy) | is equivalent to | 35069 |

818965006 (Avascular necrosis of tarsus) | is equivalent to | 563991 |

1172626003 (TELO2-related intellectual disability, neurodevelopmental disorder) | is equivalent to | 488642 |

715989002 (Karandikar Maria Kamble syndrome) | is equivalent to | 1381 |

254659009 (Multiple self-healing epithelioma of Ferguson-Smith) | is equivalent to | 65748 |

720953006 (Fibular dimelia diplopodia syndrome) | is equivalent to | 1757 |

359725000 (Hereditary von Willebrand disease type 2M) | is equivalent to | 166090 |

9250002 (Celiac artery compression syndrome) | is equivalent to | 293208 |

43226001 (Sarcotubular myopathy) | is equivalent to | 1878 |

707341005 (Viral hepatitis D) | is equivalent to | 402823 |

773621003 (Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome) | is equivalent to | 314575 |

723450004 (Pigmented paravenous retinochoroidal atrophy) | is equivalent to | 251295 |

403825008 (Familial multiple trichoepitheliomata) | is equivalent to | 867 |

253103006 (Frontal encephalocele) | is equivalent to | 1931 |

733065003 (Myoclonus, cerebellar ataxia, deafness syndrome) | is equivalent to | 2589 |

404051002 (Embryonal rhabdomyosarcoma) | is equivalent to | 99757 |

773627004 (Porencephaly, microcephaly, bilateral congenital cataract syndrome) | is equivalent to | 306547 |

763220008 (Dermoid cyst of face) | is equivalent to | 141051 |

715724002 (Syndactyly type 2) | is equivalent to | 93403 |

84296002 (Congenital atresia of small intestine) | is equivalent to | 1201 |

785301002 (Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia) | is equivalent to | 284324 |

1222643003 (Hereditary malignant neuroendocrine neoplasm of small intestine) | is equivalent to | 456333 |

57917004 (Seckel syndrome) | is equivalent to | 808 |

719271000 (Progressive osseous heteroplasia) | is equivalent to | 2762 |

230379007 (Subacute necrotizing myelitis) | is equivalent to | 79093 |

1172694007 (Adenylosuccinate synthetase-like 1-related distal myopathy) | is equivalent to | 482601 |

772129007 (Spinal muscular atrophy with lower extremity predominance) | is equivalent to | 363447 |

766044005 (Acute encephalopathy with biphasic seizures and late reduced diffusion) | is equivalent to | 363549 |

1172589000 (Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome) | is equivalent to | 496693 |

733091002 (Isolated hereditary congenital facial paralysis) | is equivalent to | 306527 |

782782004 (Autosomal recessive spondylometaphyseal dysplasia Megarbane type) | is equivalent to | 401979 |

715240000 (X-linked retinal dysplasia) | is equivalent to | 1852 |

774070008 (FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome) | is equivalent to | 404451 |

789120001 (Neurenteric cyst) | is equivalent to | 268865 |

234138005 (Bannayan syndrome) | is equivalent to | 109 |

718200007 (Primary pulmonary lymphoma) | is equivalent to | 2420 |

720573009 (Brachymorphism with onychodysplasia and dysphalangism syndrome) | is equivalent to | 1292 |

718691008 (Isolated cryptophthalmos) | is equivalent to | 91396 |

423464009 (Squamous cell carcinoma of oropharynx) | is equivalent to | 500478 |

93264003 (Congenital hypoplasia of humerus) | is equivalent to | 294973 |

230421008 (Epilepsy with myoclonic-atonic seizures) | is equivalent to | 1942 |

721231007 (Hydrocephalus with obesity and hypogonadism syndrome) | is equivalent to | 2183 |

1268958000 (Primary primitive neuroectodermal tumor of corpus uteri) | is equivalent to | 213630 |

733070005 (Duplication of eyebrow and syndactyly syndrome) | is equivalent to | 3172 |

766928004 (Generalized basaloid follicular hamartoma syndrome) | is equivalent to | 168632 |

718905007 (X-linked intellectual disability Shrimpton type) | is equivalent to | 85324 |

1230003009 (Heme oxygenase-1 deficiency) | is equivalent to | 562509 |

770410004 (Distal monosomy 14q syndrome) | is equivalent to | 96150 |

1220591004 (Pediatric collagenous gastritis) | is equivalent to | 487809 |

719662000 (6p22 microdeletion syndrome) | is equivalent to | 251046 |

773645004 (Familial infantile gigantism) | is equivalent to | 300373 |

783562005 (Syndactyly, nystagmus syndrome due to 2q31.1 microduplication) | is equivalent to | 294026 |

722033000 (Macrocephaly, short stature, paraplegia syndrome) | is equivalent to | 2427 |

80258006 (Drug-induced lupus erythematosus) | is equivalent to | 231111 |

205718006 (Chimera 46, XX; 46, XY) | is equivalent to | 199310 |

716682000 (Dominant beta-thalassemia) | is equivalent to | 231226 |

1187470001 (Autosomal recessive spastic paraplegia type 75) | is equivalent to | 459056 |

1268710000 (Primary adamantinoma of long bone) | is equivalent to | 55881 |

1268458008 (Primary anaplastic thyroid carcinoma) | is equivalent to | 142 |

780822000 (Desmoplastic infantile astrocytoma and ganglioglioma) | is equivalent to | 251940 |

359804008 (Eosinophilic gastroenteritis) | is equivalent to | 2070 |

127057004 (Paroxysmal cold hemoglobinuria) | is equivalent to | 90035 |

719812008 (X-linked intellectual disability with plagiocephaly syndrome) | is equivalent to | 2898 |

719301002 (Spinocerebellar ataxia type 37) | is equivalent to | 363710 |

424440001 (Adenocarcinoma of small intestine) | is equivalent to | 104075 |

205550003 (Lamellar ichthyosis) | is equivalent to | 313 |

719836007 (X-linked distal arthrogryposis multiplex congenita) | is equivalent to | 1145 |

726617002 (Autosomal recessive limb girdle muscular dystrophy type 2N) | is equivalent to | 206559 |

763529005 (Distal monosomy 7q36 syndrome) | is equivalent to | 1636 |

111032003 (Macular cutaneous amyloidosis) | is equivalent to | 137814 |

722062004 (Oculotrichodysplasia) | is equivalent to | 2718 |

2829000 (Uhl's disease) | is equivalent to | 3403 |

1269046008 (Primary chordoma) | is equivalent to | 178 |

719430008 (Leber plus disease) | is equivalent to | 99718 |

1236843008 (PDE4D haploinsufficiency syndrome) | is equivalent to | 439822 |

783787000 (Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations) | is equivalent to | 247691 |

722463001 (Macular coloboma, cleft palate, hallux valgus syndrome) | is equivalent to | 91494 |

238033007 (3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency) | is equivalent to | 79301 |

74398009 (XX males) | is equivalent to | 393 |

76098004 (Fibrous dysplasia of jaw) | is equivalent to | 184 |

2065009 (Dominant hereditary optic atrophy) | is equivalent to | 98672 |

128460000 (Systemic sclerosis, diffuse) | is equivalent to | 220393 |

720978005 (ALG9 congenital disorder of glycosylation) | is equivalent to | 79328 |

773735007 (Deafness with onychodystrophy syndrome) | is equivalent to | 3231 |

1230016009 (Familial congenital nasolacrimal duct obstruction) | is equivalent to | 451612 |

1237475006 (Cerebellar-facial-dental syndrome) | is equivalent to | 444072 |

717054001 (Maternally inherited mitochondrial dystonia) | is equivalent to | 254851 |

1857005 (Congenital rubella syndrome) | is equivalent to | 290 |

373604002 (Light chain deposition disease) | is equivalent to | 93558 |

733072002 (Stimmler syndrome) | is equivalent to | 3199 |

783718003 (Paternal uniparental disomy of chromosome X) | is equivalent to | 261524 |

1177062005 (Sporadic fatal insomnia) | is equivalent to | 586130 |

782911008 (Hereditary cryohydrocytosis with reduced stomatin) | is equivalent to | 168577 |

79037006 (Accessory pancreas) | is equivalent to | 674 |

715562001 (Retinitis punctata albescens) | is equivalent to | 52427 |

1172898008 (Kosaki overgrowth syndrome) | is equivalent to | 477831 |

719688002 (Multiple epiphyseal dysplasia Al-Gazali type) | is equivalent to | 166024 |

400126005 (Ulerythema ophryogenes) | is equivalent to | 3406 |

1264041000 (Autosomal dominant osteopetrosis type 1) | is equivalent to | 2783 |

720950009 (Familial thrombocytosis) | is equivalent to | 71493 |

722457005 (Juvenile cataract, microcornea, renal glucosuria syndrome) | is equivalent to | 247794 |

1269414003 (Primary fibrillary astrocytoma of central nervous system) | is equivalent to | 251601 |

254132000 (Endosteal hyperostoses with cerebellar hypoplasia) | is equivalent to | 85186 |

720863002 (Eiken syndrome) | is equivalent to | 79106 |

371090009 (Cholestasis of parenteral nutrition) | is equivalent to | 567983 |

763797003 (Agenesis of corpus callosum and abnormal genitalia syndrome) | is equivalent to | 2508 |

1268486000 (Primary ganglioneuroblastoma) | is equivalent to | 251877 |

722431007 (Double uterus, hemivagina, renal agenesis syndrome) | is equivalent to | 3411 |

718881004 (Chromosome Xq27.3q28 duplication syndrome) | is equivalent to | 261483 |

1237226008 (Isotretinoin syndrome) | is equivalent to | 2305 |

783143001 (Noonan syndrome-like disorder with juvenile myelomonocytic leukemia) | is equivalent to | 363972 |

711483003 (Spinal muscular atrophy with respiratory distress type 1) | is equivalent to | 98920 |

1237509001 (PLACK syndrome) | is equivalent to | 444138 |

1217409009 (Acquired protein S deficiency) | is equivalent to | 26349 |

1197205005 (Combined immunodeficiency due to DOCK8 deficiency) | is equivalent to | 217390 |

723449004 (Pierson syndrome) | is equivalent to | 2670 |

88220006 (Pachydermoperiostosis syndrome) | is equivalent to | 2796 |

254112001 (Osteoporosis with pseudoglioma) | is equivalent to | 2788 |

1260467009 (Large congenital pigmented melanocytic naevus of skin) | is equivalent to | 626 |

234422006 (Acute intermittent porphyria) | is equivalent to | 79276 |

238872007 (Acrogeria) | is equivalent to | 2500 |

234633000 (Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency) | is equivalent to | 2268 |

239031000 (Orofacial-digital syndrome IV) | is equivalent to | 2753 |

1259813004 (Primary anaplastic oligoastrocytoma of central nervous system) | is equivalent to | 251663 |

782946000 (Gastrocutaneous syndrome) | is equivalent to | 2069 |

206292002 (Meconium aspiration syndrome) | is equivalent to | 70588 |

1237577000 (Symptomatic form of Coffin-Lowry syndrome in female carrier) | is equivalent to | 276630 |

1222681008 (Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome) | is equivalent to | 444463 |

718099006 (Enlarged parietal foramina) | is equivalent to | 60015 |

240447002 (Pontiac fever) | is equivalent to | 99748 |

717184007 (Punctate palmoplantar keratoderma type 1) | is equivalent to | 79501 |

82699004 (Dyggve-Melchior-Clausen syndrome) | is equivalent to | 239 |

1264005000 (Immunoglobulin G4 related submandibular gland disease) | is equivalent to | 449432 |

723332005 (Isodicentric chromosome 15 syndrome) | is equivalent to | 3306 |

722056009 (Oculocerebrofacial syndrome Kaufman type) | is equivalent to | 2707 |

720414005 (Acrorenal mandibular syndrome) | is equivalent to | 958 |

20756002 (Adult hypophosphatasia) | is equivalent to | 247676 |

716864001 (Hemorrhagic fever with renal syndrome) | is equivalent to | 340 |

718572004 (Bethlem myopathy) | is equivalent to | 610 |

1767005 (Fisher's syndrome) | is equivalent to | 98919 |

719819004 (Xeroderma pigmentosum and Cockayne syndrome complex) | is equivalent to | 220295 |

716281000 (Primary progressive non fluent aphasia) | is equivalent to | 100070 |

239073008 (Circumscribed palmoplantar keratoderma) | is equivalent to | 69744 |

715721005 (Brachydactyly type A4) | is equivalent to | 93394 |

30664006 (Multiple endocrine neoplasia, type 1) | is equivalent to | 652 |

719210007 (Spinocerebellar ataxia type 14) | is equivalent to | 98763 |

78129009 (Thrombotic thrombocytopenic purpura) | is equivalent to | 54057 |

784349004 (Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies) | is equivalent to | 221145 |

13404009 (Twin-to-twin blood transfer) | is equivalent to | 95431 |

766720000 (Paternal uniparental disomy of chromosome 21) | is equivalent to | 96195 |

764688002 (Autosomal recessive spastic paraplegia type 35) | is equivalent to | 171629 |

30023002 (Hydranencephaly) | is equivalent to | 2177 |

230450001 (Eating epilepsy) | is equivalent to | 166418 |

719163006 (Accessory anterior naris) | is equivalent to | 141096 |

1208486005 (Multiple mitochondrial dysfunctions syndrome type 2) | is equivalent to | 401874 |

763455008 (X-linked Charcot-Marie-Tooth disease type 1) | is equivalent to | 101075 |

1255207005 (Immunoglobulin G4 related eosinophilic angiocentric fibrosis) | is equivalent to | 449566 |

715522000 (Schinzel phocomelia syndrome) | is equivalent to | 2879 |

771479000 (Combined immunodeficiency due to STK4 deficiency) | is equivalent to | 314689 |

778022009 (Classical-like Ehlers-Danlos syndrome type 1) | is equivalent to | 230839 |

720467005 (Aniridia and absent patella syndrome) | is equivalent to | 1069 |

190815001 (Cryoglobulinemic vasculitis) | is equivalent to | 91138 |

766814006 (Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome) | is equivalent to | 95434 |

134335004 (Hemangiopericytoma) | is equivalent to | 2126 |

702345009 (Ring chromosome 14 syndrome) | is equivalent to | 1440 |

720427009 (Acrofacial dysostosis Kennedy Teebi type) | is equivalent to | 64542 |

70528007 (Mucolipidosis) | is equivalent to | 79212 |

239059004 (KID syndrome) | is equivalent to | 477 |

10651001 (Temporal lobectomy behavior syndrome) | is equivalent to | 157823 |

725047007 (Autosomal recessive Charcot-Marie-Tooth disease with hoarseness) | is equivalent to | 101097 |

1222645005 (KRT1-related diffuse nonepidermolytic keratoderma) | is equivalent to | 530838 |

232384005 (Median nasal dermoid fistula) | is equivalent to | 141219 |

1260195002 (GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder) | is equivalent to | 589547 |

49420001 (Pemphigus vulgaris) | is equivalent to | 704 |

1156473003 (Pineocytoma) | is equivalent to | 251912 |

58750007 (Plague) | is equivalent to | 707 |

232383004 (Nasal dermoid) | is equivalent to | 141103 |

78311009 (Histidine transport defect) | is equivalent to | 2158 |

764812008 (Autosomal recessive myogenic arthrogryposis multiplex congenita) | is equivalent to | 319332 |

25858008 (Atrophic lichen planus) | is equivalent to | 254449 |

22255007 (Progressive multifocal leukoencephalopathy) | is equivalent to | 217260 |

204357006 (Ebstein's anomaly) | is equivalent to | 1880 |

726051002 (Myotonia congenita) | is equivalent to | 614 |

770591002 (Pseudounicornuate uterus) | is equivalent to | 180079 |

716096005 (Goldblatt Wallis syndrome) | is equivalent to | 2261 |

719837003 (X-linked dominant chondrodysplasia Chassaing Lacombe type) | is equivalent to | 163966 |

870320009 (Osteitis condensans of medial clavicle) | is equivalent to | 57196 |

768556005 (Ataxia pancytopenia syndrome) | is equivalent to | 2585 |

1231282002 (Benign familial neonatal-infantile seizures) | is equivalent to | 140927 |

774209001 (Didymosis aplasticosebacea) | is equivalent to | 370046 |

788674000 (Primary cutaneous CD4 positive small/medium T-cell lymphoproliferative disorder) | is equivalent to | 178522 |

118613001 (Hairy cell leukemia (clinical)) | is equivalent to | 58017 |

1156470000 (Atypical papilloma of choroid plexus) | is equivalent to | 251902 |

14087004 (Hereditary stomatocytosis) | is equivalent to | 98365 |

720825005 (Cystic leukoencephalopathy without megalencephaly) | is equivalent to | 85136 |

1172689007 (Prenatal-onset spinal muscular atrophy with congenital bone fractures) | is equivalent to | 486811 |

1197149002 (Psychogenic movement disorder) | is equivalent to | 71519 |

19265001 (Tularemia) | is equivalent to | 3392 |

773275000 (Post-transplant acute limbic encephalitis) | is equivalent to | 163921 |

720574003 (Brachytelephalangy, facial dysmorphism, Kallmann syndrome) | is equivalent to | 1295 |

724540009 (Tropical calcific chronic pancreatitis) | is equivalent to | 103918 |

71988008 (Aase syndrome) | is equivalent to | 124 |

458432002 (Arterial tortuosity syndrome) | is equivalent to | 3342 |

783090002 (IRVAN syndrome) | is equivalent to | 209943 |

254099008 (Desbuquois syndrome) | is equivalent to | 1425 |

717332007 (Cerebellar ataxia Cayman type) | is equivalent to | 94122 |

720818003 (Craniosynostosis Philadelphia type) | is equivalent to | 1527 |

773770009 (Ankyloblepharon filiforme adnatum with imperforate anus syndrome) | is equivalent to | 1074 |

1229883008 (19p13.3 microduplication syndrome) | is equivalent to | 447980 |

763062006 (2q33.1 microdeletion syndrome) | is equivalent to | 251028 |

721873007 (Joubert syndrome with orofaciodigital defect) | is equivalent to | 2754 |

238004006 (Succinyl-CoA acetoacetate transferase deficiency) | is equivalent to | 832 |

392481002 (Chandler syndrome) | is equivalent to | 98979 |

67782005 (Acute respiratory distress syndrome (disorder)) | is equivalent to | 70578 |

773668008 (Childhood encephalopathy due to thiamine pyrophosphokinase deficiency) | is equivalent to | 293955 |

84193000 (Trehalase deficiency) | is equivalent to | 103909 |

1230342001 (Hepatitis B reinfection following liver transplantation) | is equivalent to | 90073 |

276803003 (Adenocarcinoma of esophagus) | is equivalent to | 99976 |

1197215004 (Microform holoprosencephaly) | is equivalent to | 280200 |

237659007 (Pseudopseudohypoparathyroidism) | is equivalent to | 79445 |

765146000 (Oculocutaneous albinism type 1) | is equivalent to | 352731 |

1172627007 (Early-onset epilepsy, intellectual disability, brain anomalies syndrome) | is equivalent to | 488635 |

1197152005 (Distal hereditary motor neuropathy type 5) | is equivalent to | 139536 |

403969002 (Glomus tumor) | is equivalent to | 391651 |

1237421000 (PYCR2-related microcephaly, progressive leucoencephalopathy) | is equivalent to | 481152 |

715436007 (Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration) | is equivalent to | 2246 |

124224004 (Deficiency of ferroxidase) | is equivalent to | 48818 |

63450009 (Rufous albinism) | is equivalent to | 79433 |

702433001 (Congenital cataracts, facial dysmorphism and neuropathy) | is equivalent to | 48431 |

297238008 (Erythrocyte uridine diphosphate galactose-4-epimerase deficiency) | is equivalent to | 308473 |

718751000 (COG4 congenital disorder of glycosylation) | is equivalent to | 263501 |

711162004 (Autosomal dominant vitreoretinochoroidopathy) | is equivalent to | 3086 |

128210009 (Thoracic outlet syndrome) | is equivalent to | 97330 |

254097005 (Stuve-Wiedemann dysplasia) | is equivalent to | 3206 |

472706000 (Closure of fetal arterial duct) | is equivalent to | 95486 |

253781004 (Megacystis, microcolon, hypoperistalsis syndrome) | is equivalent to | 2241 |

60192008 (Lethal multiple pterygium syndrome) | is equivalent to | 33108 |

897570002 (Distal arthrogryposis type 3) | is equivalent to | 376 |

22886006 (Glutaric aciduria, type 2) | is equivalent to | 26791 |

783254003 (Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome) | is equivalent to | 251380 |

1228890005 (16p13.2 microdeletion syndrome) | is equivalent to | 500055 |

777998000 (Temtamy preaxial brachydactyly syndrome) | is equivalent to | 363417 |

718845002 (X-linked intellectual disability with ataxia and apraxia syndrome) | is equivalent to | 85338 |

764456001 (Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency) | is equivalent to | 401948 |

38847009 (XXXXY syndrome) | is equivalent to | 96264 |

27836007 (Pertussis) | is equivalent to | 1489 |

58795000 (Distal muscular dystrophy) | is equivalent to | 45448 |

67224007 (Reactive arthritis triad) | is equivalent to | 29207 |

1220598005 (Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy) | is equivalent to | 436271 |

93466004 (Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance) | is equivalent to | 2855 |

238068007 (Bifunctional peroxisomal enzyme deficiency) | is equivalent to | 300 |

1268534007 (Primary Ewing sarcoma of soft tissue) | is equivalent to | 370334 |

237913008 (Disorder of tetrahydrobiopterin metabolism) | is equivalent to | 238583 |

765143008 (Sporadic pheochromocytoma and secreting paraganglioma) | is equivalent to | 276621 |

116020001 (Disorder of branched-chain amino acid metabolism) | is equivalent to | 79197 |

774212003 (Microcornea, myopic chorioretinal atrophy, telecanthus syndrome) | is equivalent to | 369970 |

240524001 (Brazilian hemorrhagic fever) | is equivalent to | 319239 |

719600006 (1p21.3 microdeletion syndrome) | is equivalent to | 293948 |

723439002 (Native American myopathy) | is equivalent to | 168572 |

699254009 (15q13.3 microdeletion) | is equivalent to | 199318 |

127217009 (Histiocytic necrotizing lymphadenitis) | is equivalent to | 50918 |

719172003 (Spondyloepimetaphyseal dysplasia PAPSS2 type) | is equivalent to | 93282 |

74788000 (Tongue absent) | is equivalent to | 563951 |

59761008 (Glutamate formiminotransferase deficiency) | is equivalent to | 51208 |

24559001 (Mutilating keratoderma) | is equivalent to | 494 |

1186729007 (Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome) | is equivalent to | 508498 |

771269000 (Autosomal dominant multiple pterygium syndrome) | is equivalent to | 65743 |

715504003 (Spastic paraparesis and deafness) | is equivalent to | 2815 |

715864007 (Idiopathic copper associated cirrhosis of liver) | is equivalent to | 209919 |

725434009 (Autosomal recessive facio-digito-genital syndrome) | is equivalent to | 1974 |

373643003 (Cleft lip and cleft of alveolar process of maxilla) | is equivalent to | 141291 |

724140002 (Microspherophakia with metaphyseal dysplasia syndrome) | is equivalent to | 2551 |

60970005 (Parasitic myositis) | is equivalent to | 206997 |

398316009 (Patent urachus) | is equivalent to | 431341 |

782828005 (Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency) | is equivalent to | 289307 |

721970009 (Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome) | is equivalent to | 1655 |

773302000 (Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome) | is equivalent to | 168451 |

782783009 (Oculoauriculofrontonasal syndrome) | is equivalent to | 398156 |

715345007 (Young onset Parkinson disease) | is equivalent to | 2828 |

428217009 (Disseminated cytomegalovirus infection) | is equivalent to | 35062 |

1179283004 (Metopic ridging, ptosis, facial dysmorphism syndrome) | is equivalent to | 502430 |

715239002 (Sudden sensorineural hearing loss) | is equivalent to | 90059 |

26374003 (Cheilitis glandularis) | is equivalent to | 1221 |

725588002 (Bathing suit ichthyosis) | is equivalent to | 100976 |

1186720006 (CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome) | is equivalent to | 566067 |

765748009 (Adult pure red cell aplasia) | is equivalent to | 98872 |

1269233006 (Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome) | is equivalent to | 572013 |

240046001 (Muscular dystrophy with predominantly proximal limb girdle distribution) | is equivalent to | 263 |

2992000 (Pigmentary pallidal degeneration) | is equivalent to | 157850 |

733417008 (Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome) | is equivalent to | 1970 |

403775003 (Hereditary neurocutaneous angiomata) | is equivalent to | 1062 |

763721006 (Hypermethioninemia encephalopathy due to deficiency of adenosine kinase) | is equivalent to | 289290 |

719164000 (Symmetrical thalamic calcification) | is equivalent to | 1314 |

719429003 (Lelis syndrome) | is equivalent to | 140936 |

773274001 (X-linked intellectual disability, craniofacioskeletal syndrome) | is equivalent to | 163979 |

771440006 (Hemihyperplasia with multiple lipomatosis syndrome) | is equivalent to | 276280 |

430904007 (Basilar skull invagination) | is equivalent to | 2285 |

1268460005 (Primary parathyroid carcinoma) | is equivalent to | 143 |

237934001 (Transcobalamin II deficiency) | is equivalent to | 859 |

773278003 (Familial osteodysplasia Anderson type) | is equivalent to | 2769 |

771301002 (Axial spondylometaphyseal dysplasia) | is equivalent to | 168549 |

783140003 (Pelvic dysplasia, arthrogryposis of lower limbs syndrome) | is equivalent to | 2840 |

127041004 (Sickle cell-beta-thalassemia) | is equivalent to | 251359 |

238875009 (Wrinkly skin syndrome) | is equivalent to | 2834 |

773554009 (THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome) | is equivalent to | 363444 |

715673002 (Multiple epiphyseal dysplasia type 1) | is equivalent to | 93308 |

230792007 (Ependymal cyst) | is equivalent to | 269197 |

58558003 (Hyperlysinemia) | is equivalent to | 2203 |

718183003 (Familial thyroid dyshormonogenesis) | is equivalent to | 95716 |

722213009 (Severe X-linked intellectual disability Gustavson type) | is equivalent to | 3078 |

716195006 (Verloes Bourguignon syndrome) | is equivalent to | 2899 |

72991005 (Polyploidy syndrome) | is equivalent to | 96321 |

42986003 (Charcot-Marie-Tooth disease, type IB) | is equivalent to | 101082 |

186774005 (Boutonneuse fever) | is equivalent to | 83313 |

716318002 (Lynch syndrome) | is equivalent to | 144 |

52403007 (Thromboangiitis obliterans) | is equivalent to | 36258 |

723829000 (Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome) | is equivalent to | 210136 |

702346005 (Potocki-Shaffer syndrome) | is equivalent to | 52022 |

237687003 (Autosomal dominant isolated somatotropin deficiency) | is equivalent to | 231679 |

230350000 (Opsoclonus-myoclonus syndrome) | is equivalent to | 1183 |

722386009 (Celiac disease with epilepsy and cerebral calcification syndrome) | is equivalent to | 1459 |

784351000 (Antecubital pterygium syndrome) | is equivalent to | 2987 |

1157156002 (Cavernous lymphangioma) | is equivalent to | 79489 |

441134009 (Congenital dysmegakaryopoietic thrombocytopenia, Paris Trousseau type) | is equivalent to | 851 |

718135001 (Isolated right ventricular hypoplasia) | is equivalent to | 439 |

773628009 (Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome) | is equivalent to | 306542 |

1172892009 (Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RORgamma receptor mutation) | is equivalent to | 477857 |

109493006 (Dentin dysplasia, type I) | is equivalent to | 99789 |

770564004 (Microcephalic primordial dwarfism Alazami type) | is equivalent to | 319671 |

770722002 (Proximal myopathy with extrapyramidal signs) | is equivalent to | 401768 |

230407006 (Hemiplegia-hemiconvulsion-epilepsy syndrome) | is equivalent to | 86908 |

778008009 (FGFR2-related bent bone dysplasia) | is equivalent to | 313855 |

22199006 (Nail-patella syndrome) | is equivalent to | 2614 |

723824005 (Autosomal recessive spastic paraplegia type 54) | is equivalent to | 320380 |

726608002 (Autosomal recessive spastic paraplegia type 23) | is equivalent to | 101003 |

764859001 (Laing early-onset distal myopathy) | is equivalent to | 59135 |

238735005 (Loose anagen hair syndrome) | is equivalent to | 168 |

702344008 (Pitt-Hopkins syndrome) | is equivalent to | 2896 |

238035000 (Delta-4-3-oxosteroid-5-beta-reductase deficiency) | is equivalent to | 79303 |

765751002 (Autoimmune encephalopathy with parasomnia and obstructive sleep apnea) | is equivalent to | 420789 |

770898002 (Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency) | is equivalent to | 284282 |

15346004 (Familial hypoalphalipoproteinemia) | is equivalent to | 425 |

715803003 (Charcot-Marie-Tooth disease type 4B1) | is equivalent to | 99955 |

766764008 (X-linked distal spinal muscular atrophy type 3) | is equivalent to | 139557 |

715647007 (Bothnia retinal dystrophy) | is equivalent to | 85128 |

46804001 (Severe X-linked myotubular myopathy) | is equivalent to | 596 |

254196004 (Junctional epidermolysis bullosa mitis) | is equivalent to | 79402 |

773404000 (Roifman syndrome) | is equivalent to | 353298 |

774080007 (Neonatal scleroderma) | is equivalent to | 398127 |

1268707007 (Primary malignant dysgerminoma of ovary) | is equivalent to | 99912 |

717157006 (Trisomy 10p) | is equivalent to | 171929 |

1186719000 (Predisposition to invasive fungal disease due to CARD9 deficiency) | is equivalent to | 457088 |

733050004 (Dysmorphism, short stature, deafness, disorder of sex development syndrome) | is equivalent to | 2282 |

1268957005 (Primary pineoblastoma) | is equivalent to | 251909 |

766932005 (Hypothalamic hamartoma with gelastic seizure) | is equivalent to | 86906 |

715981004 (Autosomal recessive primary microcephaly) | is equivalent to | 2512 |

234638009 (Microcephaly, normal intelligence and immunodeficiency) | is equivalent to | 647 |

128563000 (Juxtaposed atrial appendage) | is equivalent to | 99100 |

30652003 (Hypermobile Ehlers-Danlos syndrome) | is equivalent to | 285 |

719516000 (Autosomal dominant focal dystonia DYT25 type) | is equivalent to | 329466 |

81285006 (Pemphigus vegetans) | is equivalent to | 79479 |

55510008 (Cor triatriatum) | is equivalent to | 1463 |

398565003 (Infection caused by Clostridium botulinum) | is equivalent to | 1267 |

719282008 (Primary ciliary dyskinesia and retinitis pigmentosa syndrome) | is equivalent to | 247522 |

733116005 (Aniridia, renal agenesis, psychomotor retardation syndrome) | is equivalent to | 1064 |

702423009 (Deafness-dystonia-optic neuronopathy syndrome) | is equivalent to | 52368 |

1279839002 (Spinocerebellar ataxia type 46) | is equivalent to | 589522 |

702382000 (Inclusion body myopathy 2) | is equivalent to | 602 |

56653005 (18p partial monosomy syndrome) | is equivalent to | 1598 |

77527000 (9p partial trisomy syndrome) | is equivalent to | 236 |

1172584005 (Childhood-onset basal ganglia degeneration syndrome) | is equivalent to | 497906 |

778067002 (Brachytelephalangic chondrodysplasia punctata) | is equivalent to | 79345 |

1230020008 (Congenital peripapillary staphyloma) | is equivalent to | 519400 |

254787009 (Verrucous hemangioma of skin) | is equivalent to | 464318 |

724099000 (Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome) | is equivalent to | 91136 |

59277005 (Zygomycosis) | is equivalent to | 73263 |

774152007 (Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies) | is equivalent to | 397758 |

1237618009 (Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome) | is equivalent to | 391677 |

717261006 (Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency) | is equivalent to | 90794 |

716663009 (Severe early childhood onset retinal dystrophy) | is equivalent to | 364055 |

47444008 (Lucey-Driscoll syndrome) | is equivalent to | 2312 |

726734001 (Short stature locking fingers syndrome) | is equivalent to | 1937 |

204552001 (Congenital subglottic stenosis) | is equivalent to | 141121 |

1216943004 (Mandibulofacial dysostosis with alopecia) | is equivalent to | 443995 |

722390006 (Congenital intrauterine infection-like syndrome) | is equivalent to | 1229 |

719944006 (Oliver McFarlane syndrome) | is equivalent to | 3363 |

62067003 (Hypoplastic left heart syndrome) | is equivalent to | 2248 |

770627003 (Desmin-related myofibrillar myopathy) | is equivalent to | 98909 |

726705007 (3q13 microdeletion syndrome) | is equivalent to | 1621 |

778049009 (Idiopathic uveal effusion syndrome) | is equivalent to | 209956 |

1231140009 (Lemierre syndrome) | is equivalent to | 137839 |

719987009 (Autosomal dominant limb girdle muscular dystrophy type 1D) | is equivalent to | 34516 |

1179286007 (Combined immunodeficiency due to GINS1 deficiency) | is equivalent to | 505227 |

1187038009 (Non-specific syndromic intellectual disability) | is equivalent to | 528084 |

718766002 (Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome) | is equivalent to | 163649 |

765046002 (Autosomal dominant Charcot-Marie-Tooth disease type 2U) | is equivalent to | 397735 |

717824007 (Grange syndrome) | is equivalent to | 79094 |

717767009 (Alport syndrome autosomal recessive) | is equivalent to | 88919 |

404120006 (Localized pagetoid reticulosis) | is equivalent to | 178517 |

57514000 (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency) | is equivalent to | 753 |

1172841001 (Combined oxidative phosphorylation defect type 30) | is equivalent to | 478042 |

763889002 (Spina bifida and hypospadias syndrome) | is equivalent to | 3176 |

400951005 (Cryptophthalmos) | is equivalent to | 98562 |

721073008 (Short stature with webbed neck and congenital heart disease syndrome) | is equivalent to | 2865 |

773693005 (Spondylo-megaepiphyseal-metaphyseal dysplasia) | is equivalent to | 228387 |

717944002 (Branchiogenic deafness syndrome) | is equivalent to | 50815 |

1177177000 (Hyperphenylalaninemia due to DNAJC12 deficiency) | is equivalent to | 508523 |

721874001 (Juberg Hayward syndrome) | is equivalent to | 2319 |

716106000 (Limb body wall complex) | is equivalent to | 2369 |

1208480004 (Epibulbar lipodermoid, preauricular appendage, polythelia syndrome) | is equivalent to | 231742 |

718752007 (Episodic ataxia type 7) | is equivalent to | 209970 |

723367005 (MACS syndrome) | is equivalent to | 217335 |

231938007 (Pellucid marginal corneal degeneration) | is equivalent to | 137672 |

58610003 (Leber's optic atrophy) | is equivalent to | 104 |

414495006 (Infestation by Demodex) | is equivalent to | 283 |

48718006 (Roberts-SC phocomelia syndrome) | is equivalent to | 3103 |

415283002 (Myelodysplastic syndrome with excess blasts-1) | is equivalent to | 100019 |

1163260008 (Non syndromic camptodactyly of fingers) | is equivalent to | 295016 |

398623004 (Myelodysplastic syndrome with excess blasts) | is equivalent to | 86839 |

765140006 (8p23.1 duplication syndrome) | is equivalent to | 251076 |

254058002 (Pseudodiastrophic dysplasia) | is equivalent to | 85174 |

239144007 (Congenital erector pili hamartoma) | is equivalent to | 263435 |

766755003 (Tetrasomy 5p syndrome) | is equivalent to | 3309 |

715338007 (Fatal infantile lactic acidosis with methylmalonic aciduria) | is equivalent to | 17 |

732245008 (Pure mitochondrial myopathy) | is equivalent to | 254854 |

715807002 (Familial Creutzfeldt-Jakob) | is equivalent to | 282166 |

763798008 (Microcephalus, complex motor and sensory axonal neuropathy syndrome) | is equivalent to | 423894 |

724283004 (Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum) | is equivalent to | 139441 |

403488004 (Systemic lupus erythematosus of childhood) | is equivalent to | 93552 |

39390005 (Niemann-Pick disease, type B) | is equivalent to | 77293 |

720601000 (Camptodactyly and tall stature with scoliosis and hearing loss syndrome) | is equivalent to | 85164 |

733045005 (Camptobrachydactyly) | is equivalent to | 1319 |

1237340007 (Primary malignant neuroendocrine neoplasm of thymus gland) | is equivalent to | 97289 |

61598006 (Glycogenosis with glucoaminophosphaturia) | is equivalent to | 2088 |

1268634001 (Primary squamous cell carcinoma of stomach) | is equivalent to | 418959 |

49762007 (Hereditary factor XI deficiency disease) | is equivalent to | 329 |

95268002 (Sinus venosus atrial septal defect) | is equivalent to | 99105 |

782877002 (Xp22.13p22.2 duplication syndrome) | is equivalent to | 284180 |

737217005 (Congenital absence of forearm and hand) | is equivalent to | 294979 |

733088002 (Preaxial polydactyly, colobomata, intellectual disability syndrome) | is equivalent to | 2921 |

95208000 (Photogenic epilepsy) | is equivalent to | 166409 |

1268487009 (Primary carcinoma of nasopharynx) | is equivalent to | 150 |

1187304005 (Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome) | is equivalent to | 457485 |

204378009 (Congenital coronary aneurysm) | is equivalent to | 95491 |

238832003 (Elastoderma) | is equivalent to | 228240 |

237611007 (Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus) | is equivalent to | 2579 |

771181009 (Hypertrichosis cubiti) | is equivalent to | 2220 |

716699004 (Epidermolysis bullosa simplex due to plakophilin deficiency) | is equivalent to | 158668 |

20348002 (14q partial distal trisomy syndrome) | is equivalent to | 1705 |

200999007 (Actinic lichen planus) | is equivalent to | 254395 |

733117001 (Thumb stiffness, brachydactyly, intellectual disability syndrome) | is equivalent to | 1078 |

1260097007 (PUM1-associated developmental disability, ataxia, seizure syndrome) | is equivalent to | 589515 |

56786000 (Pulmonic valve stenosis) | is equivalent to | 99054 |

237652003 (Insulin resistance - type B) | is equivalent to | 2298 |

726621009 (Caudal appendage deafness syndrome) | is equivalent to | 1123 |

88518009 (Wilson's disease) | is equivalent to | 905 |

720820000 (Cutaneous photosensitivity and lethal colitis syndrome) | is equivalent to | 2881 |

254153009 (Familial expansile osteolysis) | is equivalent to | 85195 |

719658006 (2q24 microdeletion syndrome) | is equivalent to | 1617 |

36188001 (Shigellosis) | is equivalent to | 810 |

59548005 (Congenital dyserythropoietic anemia, type I) | is equivalent to | 98869 |

771144005 (Hereditary motor and sensory neuropathy with acrodystrophy) | is equivalent to | 90119 |

234361004 (Congenital deficiency of intrinsic factor) | is equivalent to | 332 |

718181001 (Congenital cardiac diverticulum) | is equivalent to | 1686 |

734173003 (SCARF syndrome) | is equivalent to | 3134 |

725138002 (PELVIS syndrome) | is equivalent to | 83628 |

724226009 (Infantile osteopetrosis with neuroaxonal dysplasia syndrome) | is equivalent to | 85179 |

719404009 (Lethal recessive chondrodysplasia) | is equivalent to | 1423 |

197601003 (Finnish congenital nephrotic syndrome) | is equivalent to | 839 |

782727008 (Autosomal spastic paraplegia type 72) | is equivalent to | 401849 |

239082002 (Dyschromatosis universalis) | is equivalent to | 241 |

715986009 (Rozin Hertz Goodman syndrome) | is equivalent to | 1323 |

723819007 (Autosomal dominant spastic paraplegia type 36) | is equivalent to | 320365 |

715819005 (Lissencephaly with cerebellar hypoplasia type B) | is equivalent to | 100012 |

764522009 (Familial focal epilepsy with variable foci) | is equivalent to | 98820 |

85589009 (Radial aplasia-thrombocytopenia syndrome) | is equivalent to | 3320 |

239076000 (Palmoplantar hyperkeratosis sclerodactyly syndrome) | is equivalent to | 384 |

719816006 (X-linked sideroblastic anemia with spinocerebellar ataxia) | is equivalent to | 2802 |

42386007 (Cryptococcosis) | is equivalent to | 1546 |

277567002 (T-cell prolymphocytic leukemia) | is equivalent to | 86871 |

15069006 (Russell-Silver syndrome) | is equivalent to | 813 |

79410001 (Congenital cataract) | is equivalent to | 91492 |

402561003 (Malignant melanoma of soft tissues) | is equivalent to | 97338 |

775907000 (Congenital pontocerebellar hypoplasia type 9) | is equivalent to | 369920 |

715991005 (Crane Heise syndrome) | is equivalent to | 1512 |

1187620007 (Autosomal dominant Charcot-Marie-Tooth disease type 2DD) | is equivalent to | 521414 |

1231284001 (Autosomal dominant generalized dystrophic epidermolysis bullosa) | is equivalent to | 231568 |

1264010001 (Primary hypereosinophilic syndrome) | is equivalent to | 314950 |

716588005 (Primary non-gestational choriocarcinoma of ovary) | is equivalent to | 289356 |

720010009 (Microphthalmia with brain atrophy syndrome) | is equivalent to | 77299 |

770785002 (T-cell immunodeficiency with epidermodysplasia verruciformis) | is equivalent to | 324294 |

239071005 (Epidermolytic palmoplantar keratoderma of Vorner) | is equivalent to | 2199 |

47032000 (Congenital hydrocephalus) | is equivalent to | 2185 |

722053001 (Obesity due to prohormone convertase I deficiency) | is equivalent to | 71528 |

59708000 (Multiple epiphyseal dysplasia) | is equivalent to | 251 |

774154008 (Periodic paralysis with later-onset distal motor neuropathy) | is equivalent to | 397750 |

723555007 (Thymic, renal, anal, lung dysplasia syndrome) | is equivalent to | 3326 |

719583002 (17q11.2 microduplication syndrome) | is equivalent to | 139474 |

43929004 (Smith-Lemli-Opitz syndrome) | is equivalent to | 818 |

716863007 (Citrullinemia type II) | is equivalent to | 247585 |

389168002 (Brachydactyly syndrome type B) | is equivalent to | 93383 |

782167001 (Stewart-Morel-Morgagni syndrome) | is equivalent to | 77296 |

47070001 (Congenital web of larynx) | is equivalent to | 2374 |

785303004 (Multiple congenital anomalies, hypotonia, seizures syndrome) | is equivalent to | 280633 |

312925009 (North Carolina macular dystrophy) | is equivalent to | 75327 |

715414009 (Familial malignant neoplasm of pancreas) | is equivalent to | 1333 |

56212008 (Leydig cell agenesis) | is equivalent to | 755 |

718771009 (Spinocerebellar ataxia type 20) | is equivalent to | 101110 |

1217009002 (Primary lymphedema) | is equivalent to | 77240 |

721090002 (Dermatoosteolysis Kirghizian type) | is equivalent to | 1657 |

719584008 (17q23.1q23.2 microdeletion syndrome) | is equivalent to | 261279 |

1228843008 (Anti-p200 pemphigoid) | is equivalent to | 454710 |

700250006 (Idiopathic pulmonary fibrosis) | is equivalent to | 2032 |

239118007 (Porokeratotic eccrine ostial and dermal duct nevus) | is equivalent to | 166286 |

771141002 (Benign partial epilepsy with secondarily generalized seizures in infancy) | is equivalent to | 166302 |

238947008 (Self-healing juvenile cutaneous mucinosis) | is equivalent to | 90397 |

723826007 (Autosomal recessive spastic paraplegia type 57) | is equivalent to | 431329 |

359717002 (Hereditary von Willebrand disease type 2B) | is equivalent to | 166087 |

764732004 (Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome) | is equivalent to | 329332 |

890235002 (Autosomal recessive epidermolytic ichthyosis) | is equivalent to | 512103 |

782672006 (Extragonadal germinoma) | is equivalent to | 182127 |

31742004 (Arteriohepatic dysplasia) | is equivalent to | 52 |

232061009 (Congenital stationary night blindness) | is equivalent to | 215 |

47761007 (Brill-Zinsser disease) | is equivalent to | 99990 |

718721006 (Congenital analbuminemia) | is equivalent to | 86816 |

716337006 (Seaver Cassidy syndrome) | is equivalent to | 1778 |

715438008 (Jacobsen syndrome) | is equivalent to | 2308 |

725462002 (Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency) | is equivalent to | 99832 |

400001003 (Primary cutaneous lymphoma) | is equivalent to | 542 |

238870004 (Hutchinson-Gilford syndrome) | is equivalent to | 740 |

717334008 (Idiopathic congenital hypothyroidism) | is equivalent to | 95717 |

1212005 (Childhood type dermatomyositis) | is equivalent to | 93672 |

1847009 (Endophthalmitis) | is equivalent to | 199323 |

773394007 (Autosomal recessive frontotemporal pachygyria) | is equivalent to | 329329 |

212809004 (Methyl alcohol causing toxic effect) | is equivalent to | 31825 |

766050000 (Distal monosomy 15q) | is equivalent to | 1596 |

443928008 (Necrotizing soft tissue infection) | is equivalent to | 440368 |

715474004 (Fibular aplasia and complex brachydactyly) | is equivalent to | 2639 |

1234831009 (MIRAGE syndrome) | is equivalent to | 494433 |

715462003 (Microcephaly with cervical spine fusion anomaly) | is equivalent to | 2522 |

722453009 (Hennekam Beemer syndrome) | is equivalent to | 2135 |

240096000 (Mitochondrial cytopathy) | is equivalent to | 68380 |

1260129000 (Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome) | is equivalent to | 457205 |

1217213004 (Idiopathic acroosteolysis of phalanx) | is equivalent to | 444316 |

764435003 (17q12 microduplication syndrome) | is equivalent to | 261272 |

7368005 (Double outlet left ventricle) | is equivalent to | 3427 |

719599008 (19q13.11 microdeletion syndrome) | is equivalent to | 217346 |

737562008 (Multicystic renal dysplasia) | is equivalent to | 1851 |

715531000 (Tibial aplasia and ectrodactyly syndrome) | is equivalent to | 3329 |

400946004 (Congenital fibrosis syndrome) | is equivalent to | 45358 |

734028007 (49,XYYYY syndrome) | is equivalent to | 99330 |

79665007 (Wildervanck syndrome) | is equivalent to | 3456 |

718609003 (Congenital pontocerebellar hypoplasia type 3) | is equivalent to | 97249 |

1187642008 (Macrocephaly, intellectual disability, left ventricular non compaction syndrome) | is equivalent to | 466791 |

238069004 (Acyl-CoA oxidase deficiency) | is equivalent to | 2971 |

816068000 (Periventricular nodular heterotopia) | is equivalent to | 2149 |

763658004 (Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome) | is equivalent to | 307936 |

448054001 (Adult onset autosomal dominant leukodystrophy) | is equivalent to | 99027 |

725078006 (Congenital disorder of glycosylation type 1e) | is equivalent to | 79322 |

1187195007 (Microcephalic cortical malformations, short stature due to RTTN deficiency) | is equivalent to | 468631 |

709490002 (Desmosterolosis) | is equivalent to | 35107 |

237989003 (Succinate-coenzyme Q reductase deficiency) | is equivalent to | 3208 |

720568003 (Brachydactyly and arterial hypertension syndrome) | is equivalent to | 1276 |

782887003 (Inherited congenital spastic tetraplegia) | is equivalent to | 210141 |

230247001 (Distal spinal muscular atrophy) | is equivalent to | 53739 |

47017007 (Ring chromosome 1 syndrome) | is equivalent to | 1437 |

58976002 (Pseudohypoparathyroidism) | is equivalent to | 97593 |

768663003 (CLCN2-related leukoencephalopathy) | is equivalent to | 363540 |

111323005 (Total anomalous pulmonary venous return) | is equivalent to | 99125 |

782695002 (Primary dystonia DYT17 type) | is equivalent to | 370103 |

699537002 (Erdheim-Chester disease) | is equivalent to | 35687 |

724175002 (Lisch epithelial corneal dystrophy) | is equivalent to | 98955 |

65553006 (Aspergillosis) | is equivalent to | 1163 |

27837003 (Pyle metaphyseal dysplasia) | is equivalent to | 3005 |

14821001 (Situs ambiguus) | is equivalent to | 157769 |

718851007 (Cataract glaucoma syndrome) | is equivalent to | 162 |

1208512000 (Spinocerebellar ataxia type 41) | is equivalent to | 458798 |

720514008 (Illum syndrome) | is equivalent to | 1150 |

763683004 (46,XY ovotesticular disorder of sex development) | is equivalent to | 325345 |

712986001 (Frühsommermeningoencephalitis) | is equivalent to | 297 |

1177178005 (Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome) | is equivalent to | 508512 |

58872001 (Erythema elevatum diutinum) | is equivalent to | 90000 |

721847002 (Joubert syndrome with congenital hepatic fibrosis) | is equivalent to | 1454 |

1186721005 (Infantile inflammatory bowel disease with neurological involvement) | is equivalent to | 565788 |

236531005 (Renal dysplasia and retinal aplasia) | is equivalent to | 3156 |

1197156008 (Intermediate nemaline myopathy) | is equivalent to | 171433 |

703199001 (Laryngotracheal hemangioma) | is equivalent to | 137935 |

726031001 (CAMOS syndrome) | is equivalent to | 83472 |

723334006 (FADD-related immunodeficiency) | is equivalent to | 306550 |

274901004 (Pilomatrixoma) | is equivalent to | 91414 |

16652001 (Fabry's disease) | is equivalent to | 324 |

41574007 (Paramyotonia congenita) | is equivalent to | 684 |

726708009 (Familial isolated congenital asplenia) | is equivalent to | 101351 |

95446005 (Thrombosis of mesenteric vein) | is equivalent to | 583861 |

715826005 (Spinocerebellar ataxia type 31) | is equivalent to | 217012 |

717276003 (Folinic acid responsive seizure syndrome) | is equivalent to | 79097 |

773649005 (Transient infantile hypertriglyceridemia and hepatosteatosis) | is equivalent to | 300293 |

763891005 (Renal hepatic pancreatic dysplasia) | is equivalent to | 294415 |

703369003 (Microcephaly-capillary malformation syndrome) | is equivalent to | 294016 |

1208617001 (Congenital autosomal recessive small-platelet thrombocytopenia) | is equivalent to | 566192 |

81004002 (Leprosy) | is equivalent to | 548 |

18690003 (Farmers' lung) | is equivalent to | 99906 |

699669001 (Renpenning syndrome) | is equivalent to | 3242 |

763530000 (Distal monosomy 9p syndrome) | is equivalent to | 1642 |

36785009 (Aphasia-angular gyrus syndrome) | is equivalent to | 221117 |

312005008 (Congenital penoscrotal transposition) | is equivalent to | 2842 |

443250000 (Malignant fibromatous neoplasm) | is equivalent to | 2030 |

764104003 (Pseudotyphus of California) | is equivalent to | 83316 |

389167007 (Acromesomelic dysplasia Hunter-Thompson type) | is equivalent to | 968 |

1208935007 (Polymicrogyria due to TUBB2B mutation) | is equivalent to | 300573 |

717016001 (Autosomal dominant Charcot-Marie-Tooth disease type 2A1) | is equivalent to | 99946 |

718217000 (Cutaneous leukocytoclastic angiitis) | is equivalent to | 889 |

707541006 (Acute respiratory distress in newborn with surfactant disorder) | is equivalent to | 217563 |

770595006 (Ring chromosome 12 syndrome) | is equivalent to | 1439 |

18417009 (Oligomeganephronic hypoplasia of kidney) | is equivalent to | 2260 |

766722008 (Paraparetic variant of Guillain-Barré syndrome) | is equivalent to | 231445 |

400115004 (Focal acral hyperkeratosis) | is equivalent to | 308013 |

717266001 (Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome) | is equivalent to | 70595 |

253649001 (Aortic tunnel) | is equivalent to | 3400 |

726735000 (Autosomal recessive amelia) | is equivalent to | 1027 |

703536004 (Megalencephalic leukoencephalopathy with subcortical cysts) | is equivalent to | 2478 |

13753008 (Hemifacial spasm) | is equivalent to | 221083 |

50869007 (Periodontal Ehlers-Danlos syndrome) | is equivalent to | 75392 |

90584004 (Spinal cord injury) | is equivalent to | 90058 |

1208479002 (Papular elastorrhexis) | is equivalent to | 228264 |

254215005 (Erythrokeratoderma) | is equivalent to | 79355 |

1187465008 (Autosomal dominant spastic paraplegia type 9A) | is equivalent to | 447753 |

238024005 (B1 variant hexosaminidase A deficiency) | is equivalent to | 309239 |

1222660008 (Pancreatic agenesis, holoprosencephaly syndrome) | is equivalent to | 556955 |

1268462002 (Primary osteosarcoma of bone) | is equivalent to | 668 |

723502001 (Reticular dystrophy of retinal pigment epithelium) | is equivalent to | 99002 |

773587008 (X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome) | is equivalent to | 324410 |

430079001 (Cryopyrin associated periodic syndrome) | is equivalent to | 208650 |

277619001 (B-cell prolymphocytic leukemia) | is equivalent to | 86852 |

1162839003 (XK aprosencephaly syndrome) | is equivalent to | 3469 |

254019007 (Infraorbital facial cleft - Tessier cleft 7) | is equivalent to | 141276 |

48983004 (X chromosome-linked sideroblastic anemia) | is equivalent to | 75563 |

401046009 (Nicolaides-Baraitser syndrome) | is equivalent to | 3051 |

1230025003 (Complete septate uterus) | is equivalent to | 180126 |

26445008 (Cat eye syndrome) | is equivalent to | 195 |

773332008 (Craniosynostosis and dental anomalies syndrome) | is equivalent to | 284149 |

698849002 (Tetrasomy 18p) | is equivalent to | 3307 |

6160004 (Neonatal hemochromatosis) | is equivalent to | 446 |

78250005 (Ectopia cordis) | is equivalent to | 448270 |

1187250005 (Seizures, scoliosis, macrocephaly syndrome) | is equivalent to | 466926 |

1269273000 (Malignancy diagnosed during pregnancy) | is equivalent to | 289385 |

230425004 (Lafora disease) | is equivalent to | 501 |

733473000 (16p13.3 microduplication syndrome) | is equivalent to | 96078 |

253907008 (Congenital anterior urethral valve) | is equivalent to | 435372 |

703306007 (Primary hyperaldosteronism due to aldosterone-secreting malignant neoplasm of adrenal gland) | is equivalent to | 231625 |

1173998003 (Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome) | is equivalent to | 477673 |

52212006 (HNSHA due to glutathione reductase deficiency) | is equivalent to | 90030 |

717185008 (Deficiency of leukotriene C4 synthase) | is equivalent to | 79507 |

726733007 (Chromosome Xp22.3 microdeletion syndrome) | is equivalent to | 1643 |

718194004 (Hypothyroidism due to mutation in transcription factor of pituitary development) | is equivalent to | 226307 |

1208516002 (Spinocerebellar ataxia type 43) | is equivalent to | 497764 |

254942002 (Tumor of choroid plexus) | is equivalent to | 251896 |

109494000 (Dentin dysplasia, type II) | is equivalent to | 99791 |

783175003 (Congenital muscular dystrophy without intellectual disability) | is equivalent to | 370980 |

702432006 (Fryns syndrome) | is equivalent to | 2059 |

38196001 (Laron-type isolated somatotropin defect) | is equivalent to | 633 |

46724008 (Polyglandular activity in multiple endocrine adenomatosis) | is equivalent to | 276161 |

763888005 (Necrotizing pneumonia caused by Panton-Valentine leukocidin producing Staphylococcus aureus) | is equivalent to | 36238 |

763272003 (Distal trisomy 2q) | is equivalent to | 96094 |

764455002 (Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome) | is equivalent to | 444077 |

774066000 (Familial angiolipomatosis) | is equivalent to | 199279 |

725463007 (Severe congenital hypochromic anemia with ringed sideroblasts) | is equivalent to | 300298 |

720513002 (Arthrogryposis with renal dysfunction and cholestasis syndrome) | is equivalent to | 2697 |

389261002 (Greenberg dysplasia) | is equivalent to | 1426 |

770411000 (Distal monosomy 19p13.3) | is equivalent to | 96129 |

651000146102 (Middle East respiratory syndrome) | is equivalent to | 576074 |

239050000 (Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections) | is equivalent to | 1882 |

785299009 (Cobblestone lissencephaly without muscular or ocular involvement) | is equivalent to | 352682 |

723441001 (Non-progressive cerebellar ataxia with intellectual disability) | is equivalent to | 314647 |

707403002 (Primary fetal adenocarcinoma of lung) | is equivalent to | 284395 |

86463003 (Solitary multilocular renal cyst) | is equivalent to | 97366 |

789116000 (Infectious panuveitis) | is equivalent to | 279925 |

205481009 (Metachondromatosis) | is equivalent to | 2499 |

79745005 (Reflex epilepsy) | is equivalent to | 310 |

717772000 (CODAS syndrome) | is equivalent to | 1458 |

38371006 (Poland anomaly) | is equivalent to | 2911 |

1197212001 (Posterior meningocele) | is equivalent to | 268810 |

1230269002 (Nasolacrimal duct cyst) | is equivalent to | 141083 |

1197592001 (Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome) | is equivalent to | 436144 |

312215006 (Infective encephalitis) | is equivalent to | 98252 |

717827000 (Hereditary sensory and autonomic neuropathy with spastic paraplegia) | is equivalent to | 139578 |

230248006 (Scapuloperoneal spinal muscular atrophy) | is equivalent to | 431255 |

1269224009 (Craniosynostosis, microretrognathia, severe intellectual disability syndrome) | is equivalent to | 565858 |

447823004 (Congenital abnormality of hepatic vein) | is equivalent to | 95507 |

715900001 (Chordoid glioma) | is equivalent to | 251674 |

124473006 (Deficiency of hyaluronoglucosaminidase) | is equivalent to | 67041 |

763367009 (Autosomal recessive spastic paraplegia type 48) | is equivalent to | 306511 |

239940004 (Lymphomatoid granulomatosis) | is equivalent to | 86869 |

765484001 (Ring chromosome 19 syndrome) | is equivalent to | 1443 |

399183005 (Impetigo bullosa) | is equivalent to | 36237 |

717260007 (Congenital lipoid adrenal hyperplasia due to STAR deficiency) | is equivalent to | 90790 |

61772003 (Muscle phosphoglycerate mutase deficiency) | is equivalent to | 97234 |

230423006 (Unverricht-Lundborg syndrome) | is equivalent to | 308 |

722432000 (Duane anomaly, myopathy, scoliosis syndrome) | is equivalent to | 50817 |

1220596009 (Microcephalic primordial dwarfism, insulin resistance syndrome) | is equivalent to | 436182 |

717920004 (Blindness, scoliosis, arachnodactyly syndrome) | is equivalent to | 171844 |

765328000 (Classic mycosis fungoides) | is equivalent to | 2584 |

783622001 (Autosomal dominant spastic paraplegia type 38) | is equivalent to | 171617 |

237751000 (Congenital adrenal hyperplasia) | is equivalent to | 418 |

770409009 (Crossed polysyndactyly) | is equivalent to | 2935 |

1269048009 (Primary diffuse intrinsic pontine glioma) | is equivalent to | 497188 |

230299004 (Juvenile onset Huntington's disease) | is equivalent to | 248111 |

733621007 (46,XX disorder of sex development with skeletal anomalies syndrome) | is equivalent to | 2975 |

62557001 (Leiomyomatosis peritonealis disseminata) | is equivalent to | 71274 |

880067009 (Blount disease) | is equivalent to | 2768 |

93059006 (Congenital dilatation of pulmonary artery) | is equivalent to | 1676 |

721082002 (Dacryocystitis and osteopoikilosis syndrome) | is equivalent to | 1562 |

725589005 (Bullous dystrophy macular type) | is equivalent to | 1867 |

1197477000 (Combined immunodeficiency due to LRBA deficiency) | is equivalent to | 445018 |

230648001 (Abdominal cutaneous nerve entrapment syndrome) | is equivalent to | 51890 |

719454003 (Congenital bile acid synthesis defect type 3) | is equivalent to | 79302 |

783615009 (Erythropoietic uroporphyria associated with myeloid malignancy) | is equivalent to | 280379 |

239133004 (Reticulate acropigmentation of Kitamura) | is equivalent to | 178307 |

778047006 (Myoclonic epilepsy in non-progressive encephalopathy) | is equivalent to | 86913 |

770406002 (Brachydactyly type B2) | is equivalent to | 140908 |

204318003 (Persistent ostium secundum) | is equivalent to | 99103 |

80126007 (Plummer-Vinson syndrome) | is equivalent to | 54028 |

1010609002 (Mesomelic dysplasia of upper limb) | is equivalent to | 2497 |

445308004 (Split cord malformation) | is equivalent to | 573278 |

396334002 (Infection by Dracunculus medinensis) | is equivalent to | 231 |

21061004 (Babesiosis) | is equivalent to | 108 |

723444009 (Noonan syndrome-like disorder with loose anagen hair) | is equivalent to | 2701 |

787413007 (Bifid nose) | is equivalent to | 2695 |

8217007 (Arachnoiditis) | is equivalent to | 137817 |

1269231008 (Lipoyl transferase 2 deficiency) | is equivalent to | 447795 |

764994007 (Myopathy with hexagonally cross-linked tubular arrays) | is equivalent to | 171889 |

773416006 (Intellectual disability, facial dysmorphism, hand anomalies syndrome) | is equivalent to | 370010 |

763747002 (Congenital interventricular septum aneurysm) | is equivalent to | 99092 |

191298004 (Acquired factor II deficiency) | is equivalent to | 26348 |

773994002 (Idiopathic linear interstitial keratitis) | is equivalent to | 314017 |

404663008 (Paraneoplastic retinopathy) | is equivalent to | 71505 |

719815005 (X-linked myopathy with excessive autophagy) | is equivalent to | 25980 |

61778004 (Tumoral calcinosis) | is equivalent to | 53715 |

720519003 (Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome) | is equivalent to | 1192 |

253611000 (Quadricuspid aortic valve) | is equivalent to | 542568 |

238026007 (Infantile GM1 gangliosidosis) | is equivalent to | 79255 |

404024000 (Melanotic schwannoma) | is equivalent to | 590539 |

82732003 (Familial hypokalemic periodic paralysis) | is equivalent to | 681 |

783550006 (Hereditary sensory and autonomic neuropathy type 7) | is equivalent to | 391397 |

782736007 (Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency) | is equivalent to | 404440 |

1268961004 (Primary diffuse astrocytoma of brain) | is equivalent to | 251595 |

234451005 (Acquired von Willebrand disease) | is equivalent to | 99147 |

766883006 (Familial dilated cardiomyopathy with conduction defect due to LMNA mutation) | is equivalent to | 300751 |

51442005 (Congenital atresia of aortic valve) | is equivalent to | 95448 |

402717008 (IgA pemphigus) | is equivalent to | 555905 |

1268705004 (Primary malignant sex cord tumor of ovary) | is equivalent to | 35808 |

1187041000 (STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome) | is equivalent to | 502434 |

1187621006 (DNAJB2-related Charcot-Marie-Tooth disease type 2) | is equivalent to | 443950 |

1231180000 (Papillary intralymphatic angioendothelioma) | is equivalent to | 458768 |

404140004 (Primary cutaneous marginal zone B-cell lymphoma) | is equivalent to | 178536 |

88154004 (Ring chromosome 18 syndrome) | is equivalent to | 1442 |

1268641007 (Primary mucinous tubular and spindle cell renal carcinoma) | is equivalent to | 319322 |

765747004 (Autosomal dominant intermediate Charcot-Marie-Tooth disease type D) | is equivalent to | 100046 |

253327004 (Congenital coronary sinus stenosis) | is equivalent to | 99117 |

720600004 (Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome) | is equivalent to | 1321 |

239064000 (Keratolytic winter erythema) | is equivalent to | 50943 |

190905008 (Cystic fibrosis) | is equivalent to | 586 |

1259106002 (Infantile Alexander disease) | is equivalent to | 363717 |

734016004 (17p11.2 microduplication syndrome) | is equivalent to | 1713 |

389236000 (Neonatal osteosclerotic dysplasia) | is equivalent to | 93443 |

254060000 (Otospondylomegaepiphyseal dysplasia) | is equivalent to | 1427 |

707742001 (Bartter syndrome) | is equivalent to | 112 |

1230068002 (Isolated blepharochalasis) | is equivalent to | 519390 |

720979002 (Alopecia, contracture, dwarfism, intellectual disability syndrome) | is equivalent to | 1005 |

1259817003 (Primary pleomorphic xanthoastrocytoma of brain) | is equivalent to | 251607 |

43217004 (Hereditary factor XII deficiency disease) | is equivalent to | 330 |

254676008 (Warty dyskeratoma) | is equivalent to | 69745 |

1172588008 (Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome) | is equivalent to | 496756 |

717181004 (Hyperprolinemia type 2) | is equivalent to | 79101 |

254221009 (Neonatal cutis laxa with marfanoid phenotype) | is equivalent to | 171719 |

702367005 (Genitopatellar syndrome) | is equivalent to | 85201 |

111397004 (Saccharopinuria) | is equivalent to | 3124 |

1208933000 (4H leukodystrophy) | is equivalent to | 289494 |

723385003 (Mendelian susceptibility to mycobacterial disease due to partial IRF8 deficiency) | is equivalent to | 319600 |

1228849007 (Polyglucosan body myopathy type 2) | is equivalent to | 456369 |

766751007 (Neuhauser anomaly) | is equivalent to | 99078 |

422348008 (Andersen Tawil syndrome) | is equivalent to | 37553 |

725163002 (X-linked spasticity, intellectual disability, epilepsy syndrome) | is equivalent to | 3175 |

778023004 (Syndromic multisystem autoimmune disease due to ITCH deficiency) | is equivalent to | 228426 |

21634003 (Borjeson-Forssman-Lehmann syndrome) | is equivalent to | 127 |

410692006 (Anterior uveitis) | is equivalent to | 280886 |

715863001 (Autoimmune necrotizing myopathy) | is equivalent to | 206569 |

59252009 (Cutis laxa-corneal clouding-oligophrenia syndrome) | is equivalent to | 2962 |

707796002 (Fusion of mandibular incisor teeth) | is equivalent to | 2287 |

721236002 (Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency) | is equivalent to | 71212 |

715801001 (Charcot-Marie-Tooth disease type 4F) | is equivalent to | 99952 |

717633007 (Distal monosomy 1q syndrome) | is equivalent to | 36367 |

54627004 (Hereditary xanthinuria) | is equivalent to | 3467 |

401315004 (Smith-Magenis syndrome) | is equivalent to | 819 |

1231176005 (Congenital fistula of commissure of lips) | is equivalent to | 141061 |

788417006 (Alopecia, epilepsy, intellectual disability syndrome Moynahan type) | is equivalent to | 2574 |

253679008 (Abdominal aortic coarctation) | is equivalent to | 1456 |

1268902008 (Primary pulmonary blastoma) | is equivalent to | 64741 |

723583009 (Steroid dehydrogenase deficiency and dental anomaly syndrome) | is equivalent to | 3196 |

236443009 (Medullary sponge kidney) | is equivalent to | 1309 |

36102002 (Waterhouse-Friderichsen syndrome) | is equivalent to | 100067 |

87694001 (Pyruvate carboxylase deficiency) | is equivalent to | 3008 |

290006 (Melnick-Fraser syndrome) | is equivalent to | 107 |

29120000 (Eosinophilic colitis) | is equivalent to | 402035 |

715670004 (Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis) | is equivalent to | 93279 |

770725000 (Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly) | is equivalent to | 402364 |

733361001 (Primary mucinous adenocarcinoma of ovary) | is equivalent to | 398961 |

771237009 (Visual snow syndrome) | is equivalent to | 420556 |

1263460007 (Birt Hogg Dubé syndrome) | is equivalent to | 122 |

1172703004 (POGLUT1-related limb girdle muscular dystrophy R21) | is equivalent to | 480682 |

715565004 (Lethal arthrogryposis with anterior horn cell disease) | is equivalent to | 53696 |

448631009 (Right inferior caval vein connecting to left sided atrium) | is equivalent to | 99119 |

715707008 (Postaxial polydactyly type B) | is equivalent to | 93335 |

124274002 (Deficiency of AMP pyrophorylase) | is equivalent to | 976 |

410796000 (Juvenile seropositive polyarthritis) | is equivalent to | 85435 |

724097003 (Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome) | is equivalent to | 280679 |

787410005 (Hereditary mixed polyposis syndrome) | is equivalent to | 157794 |

773672007 (Lethal occipital encephalocele, skeletal dysplasia syndrome) | is equivalent to | 293925 |

715990006 (Cerebellum agenesis with hydrocephaly) | is equivalent to | 1397 |

724278007 (Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome) | is equivalent to | 59303 |

237770005 (Syndrome of apparent mineralocorticoid excess) | is equivalent to | 320 |

67569000 (Bronchopulmonary dysplasia of newborn) | is equivalent to | 70589 |

770728003 (Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome) | is equivalent to | 412022 |

33513003 (Familial apolipoprotein C-II deficiency) | is equivalent to | 309020 |

771187008 (Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome) | is equivalent to | 2848 |

404029005 (Neurofibroma) | is equivalent to | 252183 |

406597005 (Infection caused by Nipah virus) | is equivalent to | 99825 |

33760009 (Relapsing febrile nodular nonsuppurative panniculitis) | is equivalent to | 33577 |

711153001 (Bowen-Conradi syndrome) | is equivalent to | 1270 |

399894006 (Kimura's disease) | is equivalent to | 482 |

763623001 (Severe combined immunodeficiency due to CTPS1 deficiency) | is equivalent to | 420573 |

239072003 (Congenital palmoplantar and perioral keratoderma of Olmsted) | is equivalent to | 659 |

770905005 (Distal 7q11.23 microdeletion syndrome) | is equivalent to | 254351 |

716380002 (Logopenic progressive aphasia) | is equivalent to | 250831 |

763739002 (Idiopathic recurrent stupor) | is equivalent to | 276174 |

295315008 (Acquired methemoglobinemia) | is equivalent to | 464453 |

195353004 (Granulomatosis with polyangiitis) | is equivalent to | 900 |

238850005 (MAGIC syndrome) | is equivalent to | 324972 |

232086000 (Neovascular glaucoma) | is equivalent to | 94058 |

14870002 (Achondrogenesis, type IB) | is equivalent to | 93298 |

29633007 (Glycogen storage disease) | is equivalent to | 79201 |

764854006 (Autosomal dominant slowed nerve conduction velocity) | is equivalent to | 140481 |

716593008 (Carcinoma of salivary gland type of breast) | is equivalent to | 213557 |

763403007 (Spastic paraplegia, facial cutaneous lesion syndrome) | is equivalent to | 2819 |

718770005 (Spinocerebellar ataxia type 25) | is equivalent to | 101111 |

715364001 (Familial abdominal aortic aneurysm) | is equivalent to | 86 |

766239009 (Maternal uniparental disomy of chromosome 6) | is equivalent to | 96181 |

719256004 (Pterygium colli with intellectual disability and digital anomaly syndrome) | is equivalent to | 2988 |

309742004 (Drug-induced autoimmune hemolytic anemia) | is equivalent to | 90037 |

764697003 (Verloove Vanhorick Brubakk syndrome) | is equivalent to | 3429 |

9311003 (Hermansky-Pudlak syndrome) | is equivalent to | 79430 |

403967000 (Spindle cell hemangioma) | is equivalent to | 210584 |

721086004 (Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome) | is equivalent to | 3224 |

818952002 (Fibronectin glomerulopathy) | is equivalent to | 84090 |

717053007 (Renal tubulopathy with encephalopathy and liver failure syndrome) | is equivalent to | 254902 |

1179296003 (Colobomatous macrophthalmia with microcornea syndrome) | is equivalent to | 468672 |

715574002 (Posterior cortical atrophy syndrome) | is equivalent to | 54247 |

773345007 (Oligodontia and cancer predisposition syndrome) | is equivalent to | 300576 |

716243005 (Sellars Beighton syndrome) | is equivalent to | 3232 |

230438007 (Acquired epileptic aphasia) | is equivalent to | 98818 |

307592006 (Basophilic leukemia) | is equivalent to | 86849 |

720419000 (Acrofacial dysostosis Catania type) | is equivalent to | 1786 |

277589003 (Myelodysplastic/myeloproliferative neoplasm with neutrophilia) | is equivalent to | 98824 |

254664008 (Eruptive keratoacanthoma) | is equivalent to | 411777 |

734021001 (Spinocerebellar ataxia type 38) | is equivalent to | 423296 |

1156457009 (Papillary glioneuronal tumor of brain) | is equivalent to | 251962 |

773643006 (Multiple congenital anomalies, hypotonia, seizures syndrome type 2) | is equivalent to | 300496 |

699300009 (Oculofaciocardiodental syndrome) | is equivalent to | 2712 |

200941006 (Lupus erythematosus tumidus) | is equivalent to | 90283 |

717823001 (Goldblatt syndrome) | is equivalent to | 166272 |

733422008 (Prion protein systemic amyloidosis) | is equivalent to | 397606 |

234970006 (Dentinogenesis imperfecta - Shield's type III) | is equivalent to | 166265 |

237980004 (D-Glyceric aciduria) | is equivalent to | 941 |

771472009 (Developmental and speech delay due to SOX5 deficiency) | is equivalent to | 313892 |

254049009 (Schneckenbecken dysplasia) | is equivalent to | 3144 |

725034002 (Familial platelet syndrome with predisposition to acute myelogenous leukemia) | is equivalent to | 71290 |

5743005 (Iridoschisis) | is equivalent to | 519392 |

1187122000 (Witteveen Kolk syndrome) | is equivalent to | 500163 |

719139003 (Pettigrew syndrome) | is equivalent to | 1568 |

721092005 (Developmental malformation, deafness, dystonia syndrome) | is equivalent to | 79107 |

698272007 (Short QT syndrome) | is equivalent to | 51083 |

721904001 (Rombo syndrome) | is equivalent to | 3110 |

200837006 (Hydroa vacciniforme) | is equivalent to | 330058 |

724281002 (Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome) | is equivalent to | 2250 |

17170005 (Pili torti) | is equivalent to | 2889 |

763320005 (Craniofaciofrontodigital syndrome) | is equivalent to | 363705 |

26726000 (Legionella infection) | is equivalent to | 549 |

64081000 (Porphobilinogen synthase deficiency) | is equivalent to | 100924 |

715710001 (Polydactyly of triphalangeal thumb) | is equivalent to | 93336 |

1268716006 (Primary medulloblastoma) | is equivalent to | 616 |

718880003 (Zellweger-like syndrome without peroxisomal anomaly) | is equivalent to | 50812 |

719808002 (Chromosome Xp11.3 microdeletion syndrome) | is equivalent to | 85332 |

404143002 (Primary cutaneous follicular center B-cell lymphoma) | is equivalent to | 178540 |

124704002 (Deficiency of glutamate-ammonia ligase) | is equivalent to | 71278 |

723553000 (Transient bullous dermolysis of newborn) | is equivalent to | 79411 |

68504005 (Ataxia-telangiectasia syndrome) | is equivalent to | 100 |

68478007 (Central retinal vein occlusion) | is equivalent to | 411527 |

717061002 (Lichen planus pigmentosus) | is equivalent to | 254463 |

829973009 (Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis) | is equivalent to | 329173 |

239142006 (Michelin-tire baby) | is equivalent to | 2505 |

387922007 (Neoplasm of endocrine gland) | is equivalent to | 182130 |

80887004 (Inherited methylmalonic acidemia AND homocystinuria) | is equivalent to | 26 |

764996009 (Non-distal trisomy 13q) | is equivalent to | 1702 |

699305004 (1q21.1 microdeletion) | is equivalent to | 250989 |

403764002 (Odontomicronychial ectodermal dysplasia) | is equivalent to | 1811 |

1172889005 (Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome) | is equivalent to | 477993 |

109992005 (Polycythemia vera (clinical)) | is equivalent to | 729 |

719689005 (Multiple epiphyseal dysplasia Beighton type) | is equivalent to | 166011 |

237988006 (Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency) | is equivalent to | 2609 |

1197154006 (Childhood-onset nemaline myopathy) | is equivalent to | 171439 |

389216001 (Diaphyseal medullary stenosis with bone malignancy) | is equivalent to | 85182 |

699802009 (Silent sinus syndrome) | is equivalent to | 71276 |

734020000 (Spinocerebellar ataxia type 40) | is equivalent to | 423275 |

718772002 (Spinocerebellar ataxia type 23) | is equivalent to | 101108 |

253005002 (Vasoactive intestinal peptide-secreting tumor) | is equivalent to | 97282 |

722054007 (Ocular albinism with late-onset sensorineural deafness) | is equivalent to | 1000 |

721903007 (Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome) | is equivalent to | 3132 |

770687001 (Vasculitis due to adenosine deaminase 2 deficiency) | is equivalent to | 404553 |

1187565005 (Autosomal dominant Charcot-Marie-Tooth disease type 2Y) | is equivalent to | 435387 |

1268536009 (Primary adenoid basal carcinoma of cervix uteri) | is equivalent to | 213828 |

404036006 (Perineurioma) | is equivalent to | 85102 |

771448004 (Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency) | is equivalent to | 308410 |

724349009 (Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome) | is equivalent to | 79091 |

27031003 (African trypanosomiasis) | is equivalent to | 3385 |

773697006 (Linear focal elastosis) | is equivalent to | 228236 |

771511005 (Thrombocythemia with distal limb defect) | is equivalent to | 329319 |

723364003 (Hypotrichosis with juvenile macular degeneration syndrome) | is equivalent to | 1573 |

773393001 (Autosomal dominant Charcot-Marie-Tooth disease type 2Q) | is equivalent to | 329258 |

51053007 (Hemoglobin C disease) | is equivalent to | 2132 |

715862006 (Smith McCort dysplasia) | is equivalent to | 178355 |

190502001 (Pituitary dependent hypercortisolism) | is equivalent to | 96253 |

784345005 (Malignant migrating partial seizures of infancy) | is equivalent to | 293181 |

722019000 (Oculootoradial syndrome) | is equivalent to | 2307 |

719946008 (Tel Hashomer camptodactyly syndrome) | is equivalent to | 3292 |

724208006 (Keutel syndrome) | is equivalent to | 85202 |

28724005 (Cholestasis-edema syndrome, Norwegian type) | is equivalent to | 1414 |

399971009 (Junctional epidermolysis bullosa) | is equivalent to | 305 |

763136000 (Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome) | is equivalent to | 90103 |

1217207008 (Congenital oculomotor nerve palsy) | is equivalent to | 440221 |

722008003 (Isolated autosomal dominant hypomagnesemia Glaudemans type) | is equivalent to | 199326 |

766053003 (Distal trisomy 1p36) | is equivalent to | 96069 |

763666008 (Splenic marginal zone B-cell lymphoma) | is equivalent to | 86854 |

72523005 (X-linked ichthyosis with steryl-sulfatase deficiency) | is equivalent to | 461 |

61750000 (Infection by Angiostrongylus) | is equivalent to | 74 |

770596007 (Rippling muscle disease with myasthenia gravis) | is equivalent to | 206575 |

778073001 (3q26 microduplication syndrome) | is equivalent to | 96095 |

719097002 (BSG syndrome) | is equivalent to | 1299 |

441541008 (Takotsubo cardiomyopathy) | is equivalent to | 66529 |

254150007 (Francois syndrome) | is equivalent to | 79149 |

409617000 (Ricin poisoning) | is equivalent to | 570470 |

359673001 (Venezuelan hemorrhagic fever) | is equivalent to | 319234 |

773419004 (Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome) | is equivalent to | 391307 |

723373006 (UMOD-related autosomal dominant tubulointerstitial kidney disease) | is equivalent to | 88950 |

75017004 (Paraquat toxicity) | is equivalent to | 31827 |

764961009 (Hereditary primary clear cell renal cell carcinoma) | is equivalent to | 422526 |

724173009 (Maternally inherited cardiomyopathy and hearing loss syndrome) | is equivalent to | 1349 |

1234824005 (Acute macular neuroretinopathy) | is equivalent to | 488239 |

444910004 (Primary mediastinal (thymic) large B-cell lymphoma) | is equivalent to | 98838 |

733489002 (Distal myopathy with posterior leg and anterior hand involvement) | is equivalent to | 63273 |

91952008 (Azorean disease) | is equivalent to | 98757 |

770430000 (Autosomal recessive distal spinal muscular atrophy type 3) | is equivalent to | 139547 |

36070007 (Wiskott-Aldrich syndrome) | is equivalent to | 906 |

716248001 (Zlotogora Ogur syndrome) | is equivalent to | 3253 |

38494008 (Langer mesomelic dysplasia syndrome) | is equivalent to | 2632 |

782754006 (Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome) | is equivalent to | 397618 |

1217226000 (Progressive scapulohumeroperoneal distal myopathy) | is equivalent to | 447977 |

285311001 (Ameloblastoma of jaw) | is equivalent to | 314419 |

253310007 (Anomalous insertion of right superior vena cava to left atrium) | is equivalent to | 99110 |

237610008 (Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes) | is equivalent to | 1133 |

71779008 (X-linked hydrocephalus syndrome) | is equivalent to | 2182 |

733455003 (Spastic paraplegia, glaucoma, intellectual disability syndrome) | is equivalent to | 2818 |

42094007 (Sporotrichosis) | is equivalent to | 826 |

771074000 (Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome) | is equivalent to | 423306 |

770784003 (Sinoatrial node dysfunction and deafness) | is equivalent to | 324321 |

87153008 (Pulmonary alveolar microlithiasis) | is equivalent to | 60025 |

203389008 (Juvenile osteochondrosis of the secondary patellar center) | is equivalent to | 97337 |

403557001 (Midline cervical cleft) | is equivalent to | 141288 |

766711009 (Isolated sternocostoclavicular hyperostosis) | is equivalent to | 178311 |

44553005 (Dubin-Johnson syndrome) | is equivalent to | 234 |

716199000 (Mehes syndrome) | is equivalent to | 3038 |

1231181001 (Non-syndromic metopic craniosynostosis) | is equivalent to | 3366 |

240305000 (Neonatal alloimmune thrombocytopenia) | is equivalent to | 853 |

445187004 (Antisynthetase syndrome) | is equivalent to | 81 |

726611001 (Autosomal recessive spastic paraplegia type 61) | is equivalent to | 401780 |

67247008 (Bolivian hemorrhagic fever) | is equivalent to | 319229 |

265798000 (Congenital complete absence of lower limb) | is equivalent to | 294969 |

766879006 (Combined immunodeficiency due to OX40 deficiency) | is equivalent to | 431149 |

715523005 (Mirror polydactyly, vertebral segmentation and limb defect syndrome) | is equivalent to | 3004 |

127055007 (Chronic cold agglutinin disease) | is equivalent to | 56425 |

1157159009 (Myopericytoma) | is equivalent to | 289685 |

773284000 (Malignant germ cell neoplasm of corpus uteri) | is equivalent to | 213751 |

733447005 (Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency) | is equivalent to | 314376 |

86204009 (Immotile cilia syndrome) | is equivalent to | 244 |

31541009 (Sarcoidosis) | is equivalent to | 797 |

81208006 (Ectrodactyly) | is equivalent to | 2440 |

254829001 (Liposarcoma) | is equivalent to | 69078 |

238867003 (Infantile systemic hyalinosis) | is equivalent to | 2176 |

763312008 (Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome) | is equivalent to | 363429 |

239056006 (Flynn-Aird syndrome) | is equivalent to | 2047 |

702816000 (MECP2 duplication syndrome) | is equivalent to | 1762 |

733069009 (Deafness, vitiligo, achalasia syndrome) | is equivalent to | 3239 |

25044007 (Neuromyelitis optica) | is equivalent to | 71211 |

109998009 (Myelodysplastic syndrome with ring sideroblasts and single lineage dysplasia) | is equivalent to | 75564 |

403401007 (Acquired pseudoxanthoma elasticum) | is equivalent to | 228247 |

734031008 (Congenital achiasma) | is equivalent to | 324353 |

763316006 (Congenital patent ductus arteriosus aneurysm) | is equivalent to | 99072 |

1230021007 (Frontorhiny) | is equivalent to | 391474 |

723363009 (Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome) | is equivalent to | 69735 |

65959000 (Beta thalassemia) | is equivalent to | 848 |

234557006 (Anti-polysaccharide antibody deficiency) | is equivalent to | 70593 |

716871006 (Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency) | is equivalent to | 317425 |

95840007 (Hypoplasminogenemia) | is equivalent to | 722 |

1172629005 (Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome) | is equivalent to | 488627 |

65976001 (Cleidocranial dysostosis) | is equivalent to | 1452 |

733627006 (Primary cutaneous gamma-delta-positive T-cell lymphoma) | is equivalent to | 178533 |

715665006 (Hereditary motor and sensory neuropathy Okinawa type) | is equivalent to | 90117 |

716189005 (Heide syndrome) | is equivalent to | 2787 |

80141007 (Hemoglobinopathy) | is equivalent to | 68364 |

1156419009 (Hepatocellular adenoma) | is equivalent to | 54272 |

699299001 (Neuroferritinopathy) | is equivalent to | 157846 |

7720002 (Metaphyseal chondrodysplasia, McKusick type) | is equivalent to | 175 |

724064004 (Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome) | is equivalent to | 2064 |

770945001 (Tetramelic monodactyly) | is equivalent to | 2564 |

64981002 (Congenital atresia of larynx) | is equivalent to | 1202 |

1229946007 (MAGEL2-related Prader-Willi-like syndrome) | is equivalent to | 398069 |

31368008 (Thiamin-responsive maple syrup urine disease) | is equivalent to | 268184 |

1222708006 (TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome) | is equivalent to | 562569 |

124239003 (Deficiency of guanidinoacetate methyltransferase) | is equivalent to | 382 |

1172685001 (Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome) | is equivalent to | 487796 |

34250006 (Benign mucous membrane pemphigoid) | is equivalent to | 46486 |

772992009 (Primary differentiated carcinoma of thyroid gland) | is equivalent to | 146 |

25147002 (Subcorneal pustular dermatosis) | is equivalent to | 48377 |

1230014007 (Duane retraction syndrome with congenital deafness) | is equivalent to | 529574 |

716723000 (Acute inflammatory demyelinating polyradiculoneuropathy) | is equivalent to | 98916 |

722435003 (Dystonia 16) | is equivalent to | 210571 |

716108004 (Fryns macrocephaly) | is equivalent to | 2429 |

770414008 (Alport syndrome) | is equivalent to | 63 |

770759001 (Autosomal dominant intermediate Charcot-Marie-Tooth disease type F) | is equivalent to | 352670 |

77333008 (Perifolliculitis capitis abscedens et suffodiens) | is equivalent to | 345 |

783555001 (Hypotrichosis and deafness syndrome) | is equivalent to | 330029 |

1186710001 (Leukoencephalopathy with calcifications and cysts) | is equivalent to | 542310 |

783016009 (Panhypophysitis) | is equivalent to | 95513 |

1237343009 (Otodental syndrome) | is equivalent to | 2791 |

703533007 (Capillary malformation-arteriovenous malformation syndrome) | is equivalent to | 137667 |

765202001 (Familial multiple benign meningioma) | is equivalent to | 263662 |

719577000 (16p13.11 microdeletion syndrome) | is equivalent to | 261236 |

719378009 (Microcephalus with brachydactyly and kyphoscoliosis syndrome) | is equivalent to | 3433 |

78784005 (Amyelia) | is equivalent to | 268868 |

724002003 (Rambaud Gallian syndrome) | is equivalent to | 3018 |

28293008 (Hereditary factor VIII deficiency disease) | is equivalent to | 98878 |

190980000 (Selective immunoglobulin M deficiency) | is equivalent to | 331235 |

720572004 (Brachydactyly with syndactyly Zhao type) | is equivalent to | 93409 |

1231141008 (Mannosephosphate isomerase congenital disorder of glycosylation) | is equivalent to | 79319 |

1268540000 (Primary small cell carcinoma of ovary) | is equivalent to | 370396 |

766045006 (Acute myeloid leukemia and myelodysplastic syndrome related to alkylating agent) | is equivalent to | 102379 |

765135003 (Primary essential cutis verticis gyrata) | is equivalent to | 357220 |

402718003 (Pemphigus paraneoplastica) | is equivalent to | 63455 |

1255278004 (X-linked myotubular myopathy, abnormal genitalia syndrome) | is equivalent to | 456328 |

445269007 (Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT-lymphoma)) | is equivalent to | 52417 |

95440004 (Atrial septal aneurysm) | is equivalent to | 99107 |

403824007 (Muir-Torré syndrome) | is equivalent to | 587 |

783092005 (46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency) | is equivalent to | 168558 |

829971006 (Non-amyloid monoclonal immunoglobulin deposition disease) | is equivalent to | 86861 |

1187566006 (Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation) | is equivalent to | 435819 |

1231183003 (Familial isolated retinal arterial tortuosity) | is equivalent to | 75326 |

717223008 (X-linked epilepsy with learning disability and behavior disorder syndrome) | is equivalent to | 85294 |

717914000 (Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome) | is equivalent to | 2057 |

716200002 (Schofer Beetz Bohl syndrome) | is equivalent to | 3145 |

1231732006 (Smoldering systemic mastocytosis) | is equivalent to | 158775 |

447739003 (Mega cisterna magna) | is equivalent to | 97252 |

720749004 (Congenital hereditary endothelial dystrophy and perceptive deafness syndrome) | is equivalent to | 1490 |

766983005 (Susceptibility to respiratory infection associated with CD8alpha chain mutation) | is equivalent to | 169085 |

238928005 (Chilblain lupus erythematosus) | is equivalent to | 90280 |

450919004 (Atrial standstill) | is equivalent to | 1344 |

703232003 (Familial hyperaldosteronism type 1) | is equivalent to | 403 |

1010685005 (Oculo-auriculo-vertebral spectrum) | is equivalent to | 141132 |

699275001 (WNT4 Mullerian aplasia and ovarian dysfunction) | is equivalent to | 247768 |

722032005 (Karsch Neugebauer syndrome) | is equivalent to | 2329 |

719657001 (2q23.1 microdeletion syndrome) | is equivalent to | 228402 |

240111007 (Fungal myositis) | is equivalent to | 207000 |

719010001 (X-linked intellectual disability Schimke type) | is equivalent to | 85285 |

718687003 (Distal monosomy 10q syndrome) | is equivalent to | 96148 |

1231757001 (Idiopathic optic perineuritis) | is equivalent to | 499107 |

60650002 (Ring chromosome 9 syndrome) | is equivalent to | 96173 |

716746003 (Congenital alpha-2-antiplasmin deficiency) | is equivalent to | 79 |

715797002 (Charcot-Marie-Tooth disease type 4C) | is equivalent to | 99949 |

766705006 (Immunodeficiency due to ficolin 3 deficiency) | is equivalent to | 331190 |

416669000 (Invasive hydatidiform mole) | is equivalent to | 99925 |

723453002 (PHAVER syndrome) | is equivalent to | 2876 |

720417003 (Acrocephalopolydactyly) | is equivalent to | 221054 |

254113006 (Bruck syndrome) | is equivalent to | 2771 |

74969002 (Congenital ectopic lens) | is equivalent to | 1885 |

771476007 (Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome) | is equivalent to | 314572 |

715441004 (McDonough syndrome) | is equivalent to | 2471 |

65323003 (Polymyalgia rheumatica) | is equivalent to | 93569 |

722493007 (Familial caudal dysgenesis) | is equivalent to | 1768 |

715140008 (Nodular regenerative hyperplasia of liver) | is equivalent to | 48372 |

45042004 (Acute fulminating viral hepatitis) | is equivalent to | 35063 |

1187278006 (Spastic paraplegia, severe developmental delay, epilepsy syndrome) | is equivalent to | 464282 |

7265005 (Glycogen storage disease, type I) | is equivalent to | 364 |

230437002 (Severe myoclonic epilepsy in infancy) | is equivalent to | 33069 |

72951007 (Gastroschisis) | is equivalent to | 2368 |

78494001 (Amelogenesis imperfecta) | is equivalent to | 88661 |

92976003 (Congenital absence of tricuspid valve) | is equivalent to | 95457 |

1269413009 (Primary pilomyxoid astrocytoma) | is equivalent to | 251615 |

721584005 (Johnson neuroectodermal syndrome) | is equivalent to | 2316 |

773555005 (Severe neurodegenerative syndrome with lipodystrophy) | is equivalent to | 363400 |

716997004 (Joubert syndrome) | is equivalent to | 475 |

773488000 (Combined immunodeficiency due to MALT1 deficiency) | is equivalent to | 397964 |

1172632008 (SIX2-related frontonasal dysplasia) | is equivalent to | 488437 |

717224002 (X-linked reticulate pigmentary disorder with systemic manifestation syndrome) | is equivalent to | 85453 |

766820007 (Spondyloepimetaphyseal dysplasia with multiple dislocations) | is equivalent to | 93360 |

17602002 (Amyloidosis) | is equivalent to | 69 |

763772002 (Invasive non-typhoidal salmonellosis) | is equivalent to | 324648 |

67278007 (Congenital stenosis of pulmonary valve) | is equivalent to | 3189 |

205063003 (Congenital genu recurvatum) | is equivalent to | 295229 |

408751001 (Complex regional pain syndrome, type II) | is equivalent to | 99994 |

410797009 (Juvenile seronegative polyarthritis) | is equivalent to | 85408 |

703233008 (Familial hyperaldosteronism type 2) | is equivalent to | 404 |

235888006 (Cholestasis of pregnancy) | is equivalent to | 69665 |

1284849005 (Primary malignant Sertoli-Leydig cell tumor of ovary) | is equivalent to | 99916 |