CPT Changes Current book and archives back to 2000 Easy-to-read online book format Linked to and from code details
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SNOMED CT code SNOMED code 782964007 name Genetic disease status active date introduced 2019-07-31 fully specified name(s) Genetic disease (disorder) synonyms Genetic disease parents Disease 64572001 children 21q22.11q22.12 microdeletion syndrome 787171006 Angelman syndrome 76880004 Barber-Say syndrome 408537003 Blau syndrome 818950005 Boomerang dysplasia 254054000 Cogan-Reese syndrome 404633004 Combined immunodeficiency with granulomatosis 783743009 Conductive deafness, malformed external ear syndrome 783742004 Congenital wooly hair 254231002 DNA instability syndrome 402784007 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion 783619003 Familial temporal lobe epilepsy 783739005 Focal facial dermal dysplasia 789156003 Generalized glucocorticoid resistance syndrome 819950002 Genetic defect of hair shaft 402774006 Genetic disorder of nail 402775007 Genetic lipodystrophy 724841000 Hallermann-Streiff syndrome 7903009 Heart defect, tongue hamartoma, polysyndactyly syndrome 783738002 Hemolytic uremic syndrome 111407006 Hereditary disease 32895009 Hirschsprung disease, ganglioneuroblastoma syndrome 783737007 Klippel-Feil sequence 5601008 Lissencephaly with cerebellar hypoplasia 715817007 Maffucci syndrome 46041001 Male infertility of genetic origin 236792002 Microcystic renal disease 57088004 Mixed sclerosing bone dystrophy with extra-skeletal manifestation 783723003 Myopathy and diabetes mellitus 783722008 Osteogenesis imperfecta 78314001 Osteoglophonic dysplasia 254144002 Prader-Willi syndrome 89392001 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia 787094005 Solid neoplasm with neurotrophic receptor tyrosine kinase gene fusion 786710002 Syndactyly, nystagmus syndrome due to 2q31.1 microduplication 783562005 Syndactyly, polydactyly, ear lobe syndrome 783700001 Taurodontism 51744007 Trinucleotide repeat disorder 792856002 White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome 783703004 Williams syndrome 63247009 Winchester syndrome 254151006 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 64572001 782964007 ancestors sorted most to least specific
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