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724277002: syndroom van congenitale ichtyose met hypotrichosis (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3433502013 Congenital ichthyosis with hypotrichosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3433503015 Congenital ichthyosis with hypotrichosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3433504014 Ichthyosis, follicular atrophoderma, hypotrichosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6203061000146118 ichthyosis congenita-hypotrichosis-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6203071000146112 hypotrichose-congenitale ichtyose-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6203081000146114 IFAH-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6203101000146116 ichtyose-folliculaire atrofodermie-hypotrichose-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6203111000146119 IHS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6669561000146112 syndroom van congenitale ichtyose met hypotrichosis (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6669571000146118 syndroom van congenitale ichtyose met hypotrichosis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3433505010 Syndrome with characteristics of congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase on chromosome 11q24. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital ichthyosis with hypotrichosis syndrome (disorder) Is a Congenital hypotrichia true Inferred relationship Some
Congenital ichthyosis with hypotrichosis syndrome (disorder) Is a Autosomal recessive ichthyosis (disorder) true Inferred relationship Some
Congenital ichthyosis with hypotrichosis syndrome (disorder) Associated morphology congenitale hypoplasie (afwijkende morfologie) false Inferred relationship Some 2
Congenital ichthyosis with hypotrichosis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Congenital ichthyosis with hypotrichosis syndrome (disorder) Finding site Hair structure (body structure) false Inferred relationship Some 2
Congenital ichthyosis with hypotrichosis syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 3
Congenital ichthyosis with hypotrichosis syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Congenital ichthyosis with hypotrichosis syndrome (disorder) Finding site Skin structure false Inferred relationship Some 3
Congenital ichthyosis with hypotrichosis syndrome (disorder) Finding site Skin structure false Inferred relationship Some 2
Congenital ichthyosis with hypotrichosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital ichthyosis with hypotrichosis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital ichthyosis with hypotrichosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Congenital ichthyosis with hypotrichosis syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 1
Congenital ichthyosis with hypotrichosis syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 1
Congenital ichthyosis with hypotrichosis syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 2
Congenital ichthyosis with hypotrichosis syndrome (disorder) Has interpretation Abnormal true Inferred relationship Some 3
Congenital ichthyosis with hypotrichosis syndrome (disorder) Interprets Keratinization true Inferred relationship Some 3
Congenital ichthyosis with hypotrichosis syndrome (disorder) Finding site Entire skin true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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