FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

719209002: Spinocerebellar ataxia type 13 (disorder)


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
3315423013 Spinocerebellar ataxia type 13 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315424019 Spinocerebellar ataxia type 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402009016 Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402010014 Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterised by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia. 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 13 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 13 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 13 (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 13 (disorder) Associated morphology Degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 13 (disorder) Associated morphology Degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 13 (disorder) Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 13 (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
Spinocerebellar ataxia type 13 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 13 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 13 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start