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766812005: Trichodysplasia xeroderma syndrome (disorder)


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
3662697014 Trichodysplasia xeroderma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662698016 Trichodysplasia xeroderma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662699012 An extremely rare syndromic hair shaft anomaly with characteristics of sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987. 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
Trichodysplasia xeroderma syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
Trichodysplasia xeroderma syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 1
Trichodysplasia xeroderma syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Trichodysplasia xeroderma syndrome (disorder) est un(e) (attribut) Inherited disorder of keratinization true Inferred relationship Some
Trichodysplasia xeroderma syndrome (disorder) est un(e) (attribut) kératose false Inferred relationship Some
Trichodysplasia xeroderma syndrome (disorder) morphologie associée (attribut) Defect true Inferred relationship Some 2
Trichodysplasia xeroderma syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Trichodysplasia xeroderma syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Trichodysplasia xeroderma syndrome (disorder) est un(e) (attribut) xérodermie (trouble) true Inferred relationship Some
Trichodysplasia xeroderma syndrome (disorder) interprète (attribut) Keratinization, function (observable entity) true Inferred relationship Some 3
Trichodysplasia xeroderma syndrome (disorder) localisation d'une constatation (attribut) Hair shaft structure false Inferred relationship Some 1
Trichodysplasia xeroderma syndrome (disorder) interprète (attribut) moiteur de la peau true Inferred relationship Some 1
Trichodysplasia xeroderma syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Trichodysplasia xeroderma syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 1
Trichodysplasia xeroderma syndrome (disorder) a pour interprétation (attribut) anormal true Inferred relationship Some 3
Trichodysplasia xeroderma syndrome (disorder) est un(e) (attribut) Genetic defect of hair shaft (disorder) true Inferred relationship Some
Trichodysplasia xeroderma syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
Trichodysplasia xeroderma syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument false Inferred relationship Some
Trichodysplasia xeroderma syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 2
Trichodysplasia xeroderma syndrome (disorder) localisation d'une constatation (attribut) Hair shaft structure 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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