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402775007: 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:

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
1770699018 Genetic disorder of nail (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
6314471000241114 maladie génétique des ongles fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6314481000241111 affection génétique des ongles fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6314471000241114 maladie génétique des ongles fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6314481000241111 affection génétique des ongles fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

60 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic disorder of nail (disorder) Is a Developmental and/or congenital abnormality of nail false Inferred relationship Existential restriction modifier (core metadata concept)
Genetic disorder of nail (disorder) Finding site Nail structure false Inferred relationship Existential restriction modifier (core metadata concept)
Genetic disorder of nail (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Genetic disorder of nail (disorder) Finding site Skin appendage structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Genetic disorder of nail (disorder) Finding site Nail unit structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Genetic disorder of nail (disorder) Is a Disorder of nail true Inferred relationship Existential restriction modifier (core metadata concept)
Genetic disorder of nail (disorder) Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Inherited deformity of nail (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pachyonychia congenita syndrome Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Anonychia with bizarre flexural pigmentation Is a False Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pili torti onychodysplasia syndrome (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nail dystrophy due to Darier's disease Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oto-onycho-peroneal syndrome (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive nail dysplasia Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Trichoodontoonychial dysplasia Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dystrophic epidermolysis bullosa nails only (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cooks syndrome (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nail-patella syndrome (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis and deafness syndrome (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hidrotic ectodermal dysplasia Halal type (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Temple Baraitser syndrome (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mammary digital nail syndrome (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Schinzel-Giedion syndrome Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypohidrotic X-linked ectodermal dysplasia Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Odontotrichomelic syndrome Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary striate leuconychia Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hidrotic ectodermal dysplasia syndrome Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dermatoosteolysis Kirghizian type (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dermo-odonto dysplasia (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oculotrichodysplasia Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Stern Lubinsky Durrie syndrome (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia trichoodontoonychial type (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Curly hair, acral keratoderma, caries syndrome (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary clubbing Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary lymphedema and yellow nails (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypodontia and nail dysgenesis Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pachydermoperiostosis syndrome (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Curry-Hall syndrome Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Split-foot malformation, mesoaxial polydactyly syndrome Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Incontinentia pigmenti syndrome Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic skin disease characterised by generalised skin peeling or superficial blisters without scarring, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, painful angular cheilitis, and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas is not specific and shows hyperkeratosis, acanthosis, and occasional intraepidermal clefting with irregular acantholysis. Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary distal onycholysis Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital isolated onychodysplasia (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. Is a True Genetic disorder of nail (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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