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363185004: Hereditary disorder of the integument (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482325014 Hereditary disorder of the integument en Synonym Active Case insensitive SNOMED CT core
754981012 Hereditary disorder of the integument (disorder) en Fully specified name Active Case insensitive SNOMED CT core

658 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of the integument Is a Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of the integument Is a Disorder of integument true Inferred relationship Some
Hereditary disorder of the integument Finding site Structure of integumentary system true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Isolated generalised anhidrosis with normal sweat glands Is a True Hereditary disorder of the integument Inferred relationship Some
Juvenile hyaline fibromatosis Is a True Hereditary disorder of the integument Inferred relationship Some
PPARG-related familial partial lipodystrophy Is a True Hereditary disorder of the integument Inferred relationship Some
AKT2-related familial partial lipodystrophy Is a True Hereditary disorder of the integument Inferred relationship Some
Autosomal semi-dominant severe lipodystrophic laminopathy Is a True Hereditary disorder of the integument Inferred relationship Some
CIDEC-related familial partial lipodystrophy Is a True Hereditary disorder of the integument Inferred relationship Some
LIPE-related familial partial lipodystrophy Is a True Hereditary disorder of the integument Inferred relationship Some
LAMA5-related multisystemic syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
HELIX syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Familial chilblain lupus erythematosus Is a True Hereditary disorder of the integument Inferred relationship Some
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa Is a True Hereditary disorder of the integument Inferred relationship Some
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Familial multiple discoid fibroma Is a True Hereditary disorder of the integument Inferred relationship Some
TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Phylloid hypomelanosis Is a True Hereditary disorder of the integument Inferred relationship Some
Familial progressive hyperpigmentation and hypopigmentation of skin Is a True Hereditary disorder of the integument Inferred relationship Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease Is a True Hereditary disorder of the integument Inferred relationship Some
Piebald trait with neurologic defects syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary hypermelanosis Is a True Hereditary disorder of the integument Inferred relationship Some
Neuroectodermal melanolysosomal disease Is a True Hereditary disorder of the integument Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Waardenburg Shah syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Carney complex Is a True Hereditary disorder of the integument Inferred relationship Some
Gastrocutaneous syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Inherited cutaneous hyperpigmentation Is a True Hereditary disorder of the integument Inferred relationship Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Neurofibromatosis type 6 Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary distal onycholysis Is a True Hereditary disorder of the integument Inferred relationship Some
Congenital isolated onychodysplasia Is a True Hereditary disorder of the integument Inferred relationship Some
Birt Hogg Dubé syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Congenital ichthyosis of skin Is a False Hereditary disorder of the integument Inferred relationship Some
Familial chronic mucocutaneous candidiasis - dominant type Is a False Hereditary disorder of the integument Inferred relationship Some
Familial chronic mucocutaneous candidiasis - recessive type Is a False Hereditary disorder of the integument Inferred relationship Some
Fabry's disease Is a True Hereditary disorder of the integument Inferred relationship Some
Nail-patella syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Cholestanol storage disease Is a True Hereditary disorder of the integument Inferred relationship Some
Sitosterolaemia with xanthomatosis Is a True Hereditary disorder of the integument Inferred relationship Some
Acrocephalosyndactyly type V Is a False Hereditary disorder of the integument Inferred relationship Some
Autosomal dominant mutilating keratoderma Is a False Hereditary disorder of the integument Inferred relationship Some
Albinism Is a False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Progeria syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Familial Mediterranean fever Is a False Hereditary disorder of the integument Inferred relationship Some
Giacci familial neurogenic acroosteolysis Is a False Hereditary disorder of the integument Inferred relationship Some
Wiskott-Aldrich syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Hereditary acrodermatitis enteropathica Is a True Hereditary disorder of the integument Inferred relationship Some
Lipid proteinosis Is a True Hereditary disorder of the integument Inferred relationship Some
Papillon-Lefèvre syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Xeroderma pigmentosum Is a True Hereditary disorder of the integument Inferred relationship Some
Drug-induced pseudoporphyria Is a False Hereditary disorder of the integument Inferred relationship Some
Familial multiple polyposis syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Premature ageing syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary benign intraepithelial dyskeratosis Is a True Hereditary disorder of the integument Inferred relationship Some
Familial amyloid polyneuropathy with cutaneous amyloidosis Is a False Hereditary disorder of the integument Inferred relationship Some
Pseudoporphyria due to PUVA therapy Is a False Hereditary disorder of the integument Inferred relationship Some
Porphyria-like reaction to poison and/or environmental toxin Is a False Hereditary disorder of the integument Inferred relationship Some
Hereditary neurocutaneous angiomata Is a False Hereditary disorder of the integument Inferred relationship Some
Cutis laxa Is a False Hereditary disorder of the integument Inferred relationship Some
Menkes kinky-hair syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Familial acantholysis Is a True Hereditary disorder of the integument Inferred relationship Some
Epidermolysis bullosa Is a True Hereditary disorder of the integument Inferred relationship Some
Porphyria cutanea tarda Is a False Hereditary disorder of the integument Inferred relationship Some
Xanthomatosis Is a False Hereditary disorder of the integument Inferred relationship Some
Cutis laxa, autosomal dominant Is a False Hereditary disorder of the integument Inferred relationship Some
Cutis laxa, autosomal recessive Is a False Hereditary disorder of the integument Inferred relationship Some
Autosomal dominant epidermolysis bullosa simplex Is a False Hereditary disorder of the integument Inferred relationship Some
Hereditary benign intraepithelial dyskeratosis Is a False Hereditary disorder of the integument Inferred relationship Some
Gorlin syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary coproporphyria Is a False Hereditary disorder of the integument Inferred relationship Some
Hypopigmentation-immunodeficiency disease Is a False Hereditary disorder of the integument Inferred relationship Some
Ocular albinism-lentigines-deafness syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Albinoidism Is a False Hereditary disorder of the integument Inferred relationship Some
Oculocutaneous albinism Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary oedema of legs Is a False Hereditary disorder of the integument Inferred relationship Some
Haemodialysis-associated pseudoporphyria Is a False Hereditary disorder of the integument Inferred relationship Some
Klein-Waardenberg's syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Neurocutaneous syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Reticulate acropigmentation of Kitamura Is a True Hereditary disorder of the integument Inferred relationship Some
Multiple lentigines syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Pili torti-deafness syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Ataxia-telangiectasia syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Farber's lipogranulomatosis Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary angioedema Is a False Hereditary disorder of the integument Inferred relationship Some
Steatocystoma multiplex Is a True Hereditary disorder of the integument Inferred relationship Some
Familial cold urticaria Is a True Hereditary disorder of the integument Inferred relationship Some
Pachydermoperiostosis syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Mandibuloacral dysostosis Is a True Hereditary disorder of the integument Inferred relationship Some
Osler haemorrhagic telangiectasia syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Marfan's syndrome affecting skin Is a False Hereditary disorder of the integument Inferred relationship Some
Ultraviolet sensitive syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Severe achondrolasia with developmental delay and acanthosis nigricans Is a False Hereditary disorder of the integument Inferred relationship Some
Dyskeratosis congenita Is a True Hereditary disorder of the integument Inferred relationship Some
Follicular atrophoderma and basal cell epitheliomata Is a True Hereditary disorder of the integument Inferred relationship Some
Multiple self-healing epithelioma of Ferguson-Smith Is a True Hereditary disorder of the integument Inferred relationship Some
B-K mole (nevus) syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Schinzel-Giedion syndrome Is a True Hereditary disorder of the integument Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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