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724277002: Congenital ichthyosis with hypotrichosis syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3433503015 Congenital ichthyosis with hypotrichosis syndrome en Synonym Active Case insensitive SNOMED CT core
3433504014 Ichthyosis, follicular atrophoderma, hypotrichosis syndrome en Synonym Active Case insensitive SNOMED CT core
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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital ichthyosis with hypotrichosis syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Congenital ichthyosis with hypotrichosis syndrome Occurrence Congenital true Inferred relationship Some 1
Congenital ichthyosis with hypotrichosis syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Congenital ichthyosis with hypotrichosis syndrome Finding site Hair structure true Inferred relationship Some 1
Congenital ichthyosis with hypotrichosis syndrome Associated morphology Hypoplasia true Inferred relationship Some 1
Congenital ichthyosis with hypotrichosis syndrome Associated morphology Hyperkeratosis true Inferred relationship Some 2
Congenital ichthyosis with hypotrichosis syndrome Has interpretation Abnormal true Inferred relationship Some 3
Congenital ichthyosis with hypotrichosis syndrome Interprets Keratinisation true Inferred relationship Some 3
Congenital ichthyosis with hypotrichosis syndrome Finding site Entire skin true Inferred relationship Some 2
Congenital ichthyosis with hypotrichosis syndrome Is a Congenital hypotrichia true Inferred relationship Some
Congenital ichthyosis with hypotrichosis syndrome Is a Autosomal recessive ichthyosis true Inferred relationship Some
Congenital ichthyosis with hypotrichosis syndrome Associated morphology Congenital hypoplasia false Inferred relationship Some 2
Congenital ichthyosis with hypotrichosis syndrome Occurrence Congenital true Inferred relationship Some 2
Congenital ichthyosis with hypotrichosis syndrome Finding site Hair structure false Inferred relationship Some 2
Congenital ichthyosis with hypotrichosis syndrome Associated morphology Developmental abnormality false Inferred relationship Some 3
Congenital ichthyosis with hypotrichosis syndrome Occurrence Congenital false Inferred relationship Some 3
Congenital ichthyosis with hypotrichosis syndrome Finding site Skin structure false Inferred relationship Some 3
Congenital ichthyosis with hypotrichosis syndrome Finding site Skin structure false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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