FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  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
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
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
948121000172118 ataxie spinocérébelleuse type 13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
981001000172111 SCA13 - spinocerebellar ataxia type 13 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3431861001000119 Ataxie, spinozerebelläre, Typ 13 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
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. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
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. Is a Hereditary cerebellar degeneration false Inferred relationship Some
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. Is a Spinocerebellar ataxia true Inferred relationship Some
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. Associated morphology dégénérescence false Inferred relationship Some 2
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. Associated morphology dégénérescence false Inferred relationship Some 3
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. Finding site Cerebellar structure true Inferred relationship Some 2
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. Finding site Spinal cord structure false Inferred relationship Some 3
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. Associated morphology Degenerative abnormality true Inferred relationship Some 2
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. Finding site Spinal cord structure true Inferred relationship Some 1
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. 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)

Description inactivation indicator reference set

GB English

US English

Back to Start