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
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)	Is a	False	Hereditary disorder of the integument	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Ataxia, photosensitivity, short stature syndrome	Is a	False	Hereditary disorder of the integument	Inferred relationship	Some
Deafness with onychodystrophy syndrome	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Familial angiolipomatosis	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Diffuse palmoplantar keratoderma with painful fissures	Is a	False	Hereditary disorder of the integument	Inferred relationship	Some
Severe dermatitis, multiple allergies, metabolic wasting syndrome	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Ehlers-Danlos syndrome due to tenascin-X deficiency	Is a	False	Hereditary disorder of the integument	Inferred relationship	Some
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder)	Is a	False	Hereditary disorder of the integument	Inferred relationship	Some
Focal palmoplantar keratoderma with joint keratoses (disorder)	Is a	False	Hereditary disorder of the integument	Inferred relationship	Some
Seborrhea-like dermatitis with psoriasiform elements (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Male emopamil-binding protein disorder with neurological defect	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Autosomal recessive nail dysplasia	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Inherited disorder of keratinisation	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Parana hard skin syndrome (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
AGel amyloidosis	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Inherited cutis laxa (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Ectodermal dysplasia with hair-tooth-nail-sweating defect	Is a	False	Hereditary disorder of the integument	Inferred relationship	Some
Perilipin 1 related familial partial lipodystrophy (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Deficiency of interleukin 36 receptor antagonist	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Pachyonychia congenita syndrome	Is a	False	Hereditary disorder of the integument	Inferred relationship	Some
Multiple pterygium syndrome	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Arthrogryposis and ectodermal dysplasia syndrome	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Inherited deformity of nail (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Familial porphyria cutanea tarda	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Focal dermal hypoplasia	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Hereditary benign telangiectasia	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Odontotrichomelic syndrome	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Hereditary striate leuconychia (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Francois syndrome	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Marie Unna syndrome	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Hereditary palmoplantar keratoderma	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Neonatal purpura fulminans (homozygous protein C deficiency) (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Autosomal recessive familial woolly hair	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Neurofibromatosis type 2	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Neurofibromatosis type 1	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Distichiasis-lymphedema syndrome	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Focal facial dermal dysplasia type I	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Focal facial dermal dysplasia type II	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Focal facial dermal dysplasia type IV (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Multiple fibrofolliculomas	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Woodhouse Sakati syndrome	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Heredofamilial systemic amyloidosis affecting skin (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Poikilodermal cutaneous amyloid	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Familial amyloid nephropathy with urticaria AND deafness	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Hereditary clubbing	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Familial lichen amyloidosis	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Hereditary lymphedema and yellow nails (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Hyperphosphataemic familial tumoural calcinosis	Is a	False	Hereditary disorder of the integument	Inferred relationship	Some
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Adams-Oliver syndrome	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Hypodontia and nail dysgenesis	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Histiocytosis-lymphadenopathy plus syndrome (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Proteus syndrome	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Familial cutaneous collagenoma	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Familial spinal neurofibromatosis	Is a	False	Hereditary disorder of the integument	Inferred relationship	Some
X-linked congenital generalized hypertrichosis	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Infantile systemic hyalinosis	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Curry-Hall syndrome	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Generalized congenital lipodystrophy with myopathy (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Hereditary leiomyomatosis and renal cell carcinoma (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Tumoral calcinosis	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Chondrodysplasia punctata, X-linked dominant type (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Split-foot malformation, mesoaxial polydactyly syndrome	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Mohr syndrome	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Orofacial-digital syndrome III	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Orofacial-digital syndrome IV	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Isolated generalized anhidrosis with normal sweat glands	Is a	True	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)