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402770002: Autosomal dominant ichthyosis (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
1770694011 Autosomal dominant ichthyosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1781864017 Autosomal dominant ichthyosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5261501000241113 ichtyose autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


9 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant ichthyosis (disorder) Is a Congenital ichthyosis of skin true Inferred relationship Some
Autosomal dominant ichthyosis (disorder) Associated morphology anomalie congénitale false Inferred relationship Some 1
Autosomal dominant ichthyosis (disorder) Occurrence Congenital false Inferred relationship Some
Autosomal dominant ichthyosis (disorder) Finding site Structure of skin region false Inferred relationship Some
Autosomal dominant ichthyosis (disorder) Finding site Skin structure false Inferred relationship Some 1
Autosomal dominant ichthyosis (disorder) Associated morphology anomalie congénitale false Inferred relationship Some 1
Autosomal dominant ichthyosis (disorder) Finding site Skin structure false Inferred relationship Some 1
Autosomal dominant ichthyosis (disorder) Occurrence Congenital false Inferred relationship Some 2
Autosomal dominant ichthyosis (disorder) Associated morphology anomalie du développement false Inferred relationship Some 2
Autosomal dominant ichthyosis (disorder) Finding site Skin structure false Inferred relationship Some 2
Autosomal dominant ichthyosis (disorder) Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
Autosomal dominant ichthyosis (disorder) Occurrence Congenital true Inferred relationship Some 1
Autosomal dominant ichthyosis (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Autosomal dominant ichthyosis (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 1
Autosomal dominant ichthyosis (disorder) Interprets Keratinization true Inferred relationship Some 2
Autosomal dominant ichthyosis (disorder) Has interpretation Abnormal true Inferred relationship Some 2
Autosomal dominant ichthyosis (disorder) Finding site Entire skin true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Ichthyosis hystrix Is a False Autosomal dominant ichthyosis (disorder) Inferred relationship Some
Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toenails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age. Is a False Autosomal dominant ichthyosis (disorder) Inferred relationship Some
Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. Is a False Autosomal dominant ichthyosis (disorder) Inferred relationship Some
Autosomal dominant ichthyosis vulgaris Is a True Autosomal dominant ichthyosis (disorder) Inferred relationship Some
Autosomal dominant lamellar ichthyosis Is a True Autosomal dominant ichthyosis (disorder) Inferred relationship Some
A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated. Is a True Autosomal dominant ichthyosis (disorder) Inferred relationship Some
Bullous ichthyosiform erythroderma Is a True Autosomal dominant ichthyosis (disorder) Inferred relationship Some
Senter syndrome Is a True Autosomal dominant ichthyosis (disorder) Inferred relationship Some
Ichthyosis hystrix gravior (disorder) Is a True Autosomal dominant ichthyosis (disorder) Inferred relationship Some

This concept is not in any reference sets

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