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363185004: Hereditary disorder of the integument (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
482325014 Hereditary disorder of the integument en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
754981012 Hereditary disorder of the integument (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
2321891000005112 hereditær sygdom i integumentet da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept) Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

623 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 (body structure) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Progeria Is a False Hereditary disorder of the integument Inferred relationship Some
Mandibuloacral dysostosis Is a True Hereditary disorder of the integument Inferred relationship Some
Marfan's syndrome affecting skin Is a False Hereditary disorder of the integument Inferred relationship Some
Hereditary sclerosing poikiloderma 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
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
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 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
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
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
Hereditary edema of legs 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
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
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
Sitosterolemia with xanthomatosis Is a True Hereditary disorder of the integument Inferred relationship Some
Acrocephalosyndactyly type V (disorder) 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
Familial Mediterranean fever Is a False Hereditary disorder of the integument Inferred relationship Some
Giacci familial neurogenic acroosteolysis (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Drug-induced pseudoporphyria (disorder) 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 (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Premature aging syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary benign intraepithelial dyskeratosis (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Familial amyloid polyneuropathy with cutaneous amyloidosis (disorder) 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 (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Familial acantholysis (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Cutis laxa, autosomal dominant (disorder) 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 (disorder) 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
Okulær albinisme-lentigines-døvhedssyndrom Is a False Hereditary disorder of the integument Inferred relationship Some
Albinoidisme Is a False Hereditary disorder of the integument Inferred relationship Some
Oculocutaneous albinism Is a False Hereditary disorder of the integument Inferred relationship Some
Hemodialysis-associated pseudoporphyria (disorder) 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
Reticulate acropigmentation of Kitamura Is a False 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 True 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
Osler hemorrhagic telangiectasia syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Ultraviolet sensitive syndrome (disorder) 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
Rothmund-Thomson syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Crouzon syndrome with acanthosis nigricans (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Kohlschutter's syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Autosomal dominant familial woolly hair Is a True Hereditary disorder of the integument Inferred relationship Some
Disseminated superficial porokeratosis Is a False Hereditary disorder of the integument Inferred relationship Some
Von Hippel-Lindau syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary neurocutaneous angiomata (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Peutz-Jeghers syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Tuberous sclerosis syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Neurofibromatosis syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Congenital reticular ichthyosiform erythroderma (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Cutis gyrata syndrome of Beare and Stevenson Is a False Hereditary disorder of the integument Inferred relationship Some
Brooke-Spiegler syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Capillary malformation-arteriovenous malformation syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Legius syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Acral peeling skin syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Atrophoderma vermiculatum Is a False Hereditary disorder of the integument Inferred relationship Some
Cole disease Is a False Hereditary disorder of the integument Inferred relationship Some
Oto-onycho-peroneal syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Familial partial lipodystrophy type 2 (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Naxos disease Is a False Hereditary disorder of the integument Inferred relationship Some
Glomuvenous malformation (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Ameloonychohypohidrotic syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Familial progressive hyperpigmentation (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Ectodermal dysplasia with natal teeth Turnpenny type (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Oculocerebral hypopigmentation syndrome of Preus type (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Alopecia and intellectual disability syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary keratoacanthoma (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Punctate palmoplantar keratoderma type 1 (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some

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Reference Sets

Danish translated concepts reference set (foundation metadata concept)

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