Genetic disorder of skin pigmentation 724839001 SNOMED CT code SNOMED code 724839001 name Genetic disorder of skin pigmentation status active date introduced 2017-07-31 fully specified name(s) Genetic disorder of skin pigmentation (disorder) synonyms Genetic disorder of skin pigmentation attributes - group1 Associated morphology Pigment alteration 79644001 Finding site Skin structure 39937001 parents children Albinoidism 52692001 removed: 2019-07-31 Carney complex 733491005 Deaf blind hypopigmentation syndrome Yemenite type 721084001 Deafness, vitiligo, achalasia syndrome 733069009 Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome 782949007 Familial progressive hyper and hypopigmentation 763368004 Gastrocutaneous syndrome 782946000 Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome 733469003 Hereditary hypermelanosis 403804008 Inherited cutaneous hyperpigmentation 239079007 Legius syndrome 703541007 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies 1208985003 Neuroectodermal melanolysosomal disease 724091002 Neurofibromatosis type 6 1208340009 Oculocerebral hypopigmentation syndrome of Preus type 716174001 Oculocutaneous albinism 63844009 Osteoporosis and oculocutaneous hypopigmentation syndrome 722113001 Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu 403790004 Phylloid hypomelanosis 403807001 Piebald trait with neurologic defects syndrome 773984007 Piebaldism 718122005 Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome 1230005002 Punctate acrokeratoderma freckle-like pigmentation 1237573001 Reticulate acropigmentation of Kitamura 239133004 Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome 1172629005 Vici syndrome 719824001 Waardenburg's syndrome 47434006 X-linked reticulate pigmentary disorder with systemic manifestation syndrome 717224002 Xeroderma pigmentosum 44600005 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 64572001 414032001 46690002 724839001 138875005 404684003 64572001 782964007 724839001 ancestors sorted most to least specific
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