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716191002: Alopecia and intellectual disability syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3305032014 Alopecia and intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305033016 Alopecia and intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305034010 Perniola Krajewska Carnevale syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3305035011 An extremely rare syndrome described in less than 20 families to date and has characteristics of total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. 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
Alopecia and intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Alopecia and intellectual disability syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Alopecia and intellectual disability syndrome (disorder) est un(e) (attribut) alopécie (trouble) true Inferred relationship Some
Alopecia and intellectual disability syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Alopecia and intellectual disability syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Alopecia and intellectual disability syndrome (disorder) morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 1
Alopecia and intellectual disability syndrome (disorder) localisation d'une constatation (attribut) Hair structure (body structure) true Inferred relationship Some 1
Alopecia and intellectual disability syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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