402775007: genetische nagelaandoening (aandoening)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)

\Finding of limb structure\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)

\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)

\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)

\Disease\Genetic disease\Genetic disorder of nail (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genetic disorder of nail (disorder)	Is a	afwijkende ontwikkeling en/of congenitale afwijking van nagel (aandoening)	false	Inferred relationship	Some
Genetic disorder of nail (disorder)	Finding site	structuur van unguis (lichaamsstructuur)	false	Inferred relationship	Some
Genetic disorder of nail (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Genetic disorder of nail (disorder)	Finding site	Skin appendage structure	false	Inferred relationship	Some
Genetic disorder of nail (disorder)	Finding site	Nail unit structure	true	Inferred relationship	Some	1
Genetic disorder of nail (disorder)	Is a	Disorder of nail (disorder)	true	Inferred relationship	Some
Genetic disorder of nail (disorder)	Is a	Genetic disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Inherited deformity of nail (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Pachyonychia congenita syndrome	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Anonychia with bizarre flexural pigmentation	Is a	False	Genetic disorder of nail (disorder)	Inferred relationship	Some
Pili torti onychodysplasia syndrome (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Nail dystrophy due to Darier's disease (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Oto-onycho-peroneal syndrome	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Autosomal recessive nail dysplasia	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Trichoodontoonychial dysplasia	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Dystrophic epidermolysis bullosa nails only (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Cooks syndrome (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Nail-patella syndrome	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Hypotrichosis and deafness syndrome	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Hidrotic ectodermal dysplasia Halal type (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Temple Baraitser syndrome (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Anonychia with microcephaly syndrome (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Mammary digital nail syndrome (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Deafness with onychodystrophy syndrome	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Schinzel-Giedion syndrome	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Hypohidrotic X-linked ectodermal dysplasia	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Odontotrichomelic syndrome	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Hereditary striate leuconychia (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Hidrotic ectodermal dysplasia syndrome	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Dermatoosteolysis Kirghizian type (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Dermo-odonto dysplasia (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Oculotrichodysplasia (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Stern Lubinsky Durrie syndrome (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Ectodermal dysplasia trichoodontoonychial type (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Curly hair, acral keratoderma, caries syndrome (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Arthrogryposis and ectodermal dysplasia syndrome	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Hereditary clubbing	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Hereditary lymphedema and yellow nails (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Hypodontia and nail dysgenesis	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Pachydermoperiostosis syndrome	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Curry-Hall syndrome	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Split-foot malformation, mesoaxial polydactyly syndrome	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Incontinentia pigmenti syndrome	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Hereditary distal onycholysis	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Congenital isolated onychodysplasia	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
EN1-related dorsoventral syndrome	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some
Congenital hereditary nail dystrophy (disorder)	Is a	True	Genetic disorder of nail (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1770699018	Genetic disorder of nail (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1781869010	Genetic disorder of nail	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
9638261000146118	genetische nagelaandoening (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9638271000146112	genetische nagelaandoening	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)