FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

719254001: ataxie spinocérébelleuse type 32 (trouble)


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

Descriptions:

Id Description Lang Type Status Case? Module
3315695016 Spinocerebellar ataxia type 32 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315696015 Spinocerebellar ataxia type 32 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
753861000241111 ataxie spinocérébelleuse type 32 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
882481000172113 ataxie cérébelleuse avec azoospermie et déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
956881000172110 ataxie spinocérébelleuse type 32 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3315697012 Disease with characteristics of ataxia, cognitive impairment and azoospermia in males. Reported in one Chinese family to date. Disease onset occurs in adulthood with females more affected than males. Manifestations include cerebellar ataxia, cognitive impairment and in males, azoospermia. Cerebellar atrophy is visible with magnetic resonance imaging. The causal gene has not yet been identified but it is located to chromosome 7q32-q33. 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
Spinocerebellar ataxia type 32 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
Spinocerebellar ataxia type 32 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 32 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 32 (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 32 (disorder) est un(e) (attribut) Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 32 (disorder) est un(e) (attribut) ataxie spinocérébelleuse dominante true Inferred relationship Some
Spinocerebellar ataxia type 32 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 2
Spinocerebellar ataxia type 32 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 3
Spinocerebellar ataxia type 32 (disorder) localisation d'une constatation (attribut) structure cérébelleuse true Inferred relationship Some 2
Spinocerebellar ataxia type 32 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start