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

725433003: Autosomal recessive cerebellar ataxia Beauce type (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3450449019 Autosomal recessive cerebellar ataxia Beauce type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3450450019 Autosomal recessive cerebellar ataxia Beauce type en Synonym Active Initial character case insensitive SNOMED CT core
3450451015 ARCA1 - autosomal recessive cerebellar ataxia type 1 en Synonym Active Case sensitive SNOMED CT core
3450452010 Disease with characteristics of slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive cerebellar ataxia Beauce type Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive cerebellar ataxia Beauce type Is a Hereditary disorder of nervous system false Inferred relationship Some
Autosomal recessive cerebellar ataxia Beauce type Finding site Cerebellar structure true Inferred relationship Some 1
Autosomal recessive cerebellar ataxia Beauce type Is a Late onset cerebellar ataxia true Inferred relationship Some
Autosomal recessive cerebellar ataxia Beauce type Is a Cerebellar ataxia true Inferred relationship Some
Autosomal recessive cerebellar ataxia Beauce type Is a Hereditary ataxia true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start