FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

719250005: Spinocerebellar ataxia type 18 (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
3315683016 Spinocerebellar ataxia type 18 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315684010 Spinocerebellar ataxia type 18 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315685011 Disease with characteristics of sensory neuropathy and cerebellar ataxia. Prevalence is unknown. Only 26 cases in a 5-generation American family of Irish ancestry have been reported to date. Onset is in the second and third decades of life with symptomatic onset ranging from 13 to 27 years. Patients initially present with axonal sensory neuropathy, while cerebellar ataxia and motor neuron dysfunction develop later. Linked to chromosome 7q22-q23 but the responsible gene mutation has not yet been identified. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3930261000052116 spinocerebellär ataxi, typ 18 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spinocerebellar ataxia type 18 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 18 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 18 (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 18 (disorder) Associated morphology degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 18 (disorder) Associated morphology degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 18 (disorder) Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 18 (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
Spinocerebellar ataxia type 18 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Some 1
Spinocerebellar ataxia type 18 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Some 2
Spinocerebellar ataxia type 18 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start