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782878007: Autosomal recessive nail dysplasia (disorder)


Status: current, Not 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
3756521013 Autosomal recessive nail dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756522018 Autosomal recessive nail dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756523011 A rare isolated nail anomaly with characteristics of claw-shaped thick hyperplastic hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. There is evidence the disease can be caused by homozygous mutation in the FZD6 gene on chromosome 8q22.3-q23.1. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3756521013 Autosomal recessive nail dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756522018 Autosomal recessive nail dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756523011 A rare isolated nail anomaly with characteristics of claw-shaped thick hyperplastic hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. There is evidence the disease can be caused by homozygous mutation in the FZD6 gene on chromosome 8q22.3-q23.1. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3408641001000117 Nageldysplasie, autosomal-rezessive de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5787871000241117 dysplasie autosomique récessive d'un ongle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5787881000241115 dysplasie unguéale autosomique récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5787871000241117 dysplasie autosomique récessive d'un ongle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5787881000241115 dysplasie unguéale autosomique récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3408641001000117 Nageldysplasie, autosomal-rezessive de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive nail dysplasia Finding site Nail plate is the horny translucent plate of nail unit. true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive nail dysplasia Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive nail dysplasia Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive nail dysplasia Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive nail dysplasia Is a Skin lesion true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive nail dysplasia Is a Genetic disorder of nail (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive nail dysplasia Is a Disorder of skin appendage false Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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