363185004: Hereditary disorder of the integument (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument

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

482325014 Hereditary disorder of the integument en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754981012 Hereditary disorder of the integument (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1969431000052119 ärftlig sjukdom i hud sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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
autosomalt dominant mutilerande keratodermi	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	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	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
okulär albinism - lentiginos - dövhetssyndrom	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	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
svår akondroplasi med försenad utveckling och 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	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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Id	Description	Lang	Type	Status	Case?	Module
482325014	Hereditary disorder of the integument	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
754981012	Hereditary disorder of the integument (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1969431000052119	ärftlig sjukdom i hud	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)