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764523004: trichomégalie isolée familiale (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3650201015 Familial isolated trichomegaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3650202010 Familial isolated trichomegaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
766971000241110 trichomégalie isolée familiale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
879401000172118 trichomégalie isolée familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3649936012 A rare genetic hair anomaly with characteristics of a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated. There is evidence the disease is caused by homozygous mutation in the FGF5 gene on chromosome 4q21. 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
Familial isolated trichomegaly Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Familial isolated trichomegaly morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Familial isolated trichomegaly est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Familial isolated trichomegaly est un(e) (attribut) Congenital anomaly of hair true Inferred relationship Some
Familial isolated trichomegaly est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Familial isolated trichomegaly est un(e) (attribut) Congenital anomaly of eyelid true Inferred relationship Some
Familial isolated trichomegaly est un(e) (attribut) Familial disease true Inferred relationship Some
Familial isolated trichomegaly est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Familial isolated trichomegaly est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Familial isolated trichomegaly morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
Familial isolated trichomegaly survenue (attribut) congénital true Inferred relationship Some 1
Familial isolated trichomegaly localisation d'une constatation (attribut) Structure of eyelash true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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