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1217230002: Cerebellar ataxia with oculomotor apraxia type 4 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5035225011 Cerebellar ataxia with oculomotor apraxia type 4 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5035226012 AOA4 - ataxia, oculomotor apraxia type 4 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5035229017 Cerebellar ataxia with oculomotor apraxia type 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5035228013 A rare autosomal recessive cerebellar ataxia with characteristics of onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen. 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
Cerebellar ataxia with oculomotor apraxia type 4 (disorder) est un(e) (attribut) dystonie true Inferred relationship Some
Cerebellar ataxia with oculomotor apraxia type 4 (disorder) est un(e) (attribut) Oculomotor apraxia (disorder) true Inferred relationship Some
Cerebellar ataxia with oculomotor apraxia type 4 (disorder) est un(e) (attribut) atteinte d'un nerf périphérique true Inferred relationship Some
Cerebellar ataxia with oculomotor apraxia type 4 (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Cerebellar ataxia with oculomotor apraxia type 4 (disorder) est un(e) (attribut) Hereditary ataxia (disorder) true Inferred relationship Some
Cerebellar ataxia with oculomotor apraxia type 4 (disorder) est un(e) (attribut) Chronic brain syndrome true Inferred relationship Some
Cerebellar ataxia with oculomotor apraxia type 4 (disorder) est un(e) (attribut) Cerebellar ataxia true Inferred relationship Some
Cerebellar ataxia with oculomotor apraxia type 4 (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Cerebellar ataxia with oculomotor apraxia type 4 (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 1
Cerebellar ataxia with oculomotor apraxia type 4 (disorder) interprète (attribut) Movement (observable entity) true Inferred relationship Some 5
Cerebellar ataxia with oculomotor apraxia type 4 (disorder) localisation d'une constatation (attribut) structure cérébelleuse true Inferred relationship Some 2
Cerebellar ataxia with oculomotor apraxia type 4 (disorder) localisation d'une constatation (attribut) Structure of visual system (body structure) true Inferred relationship Some 3
Cerebellar ataxia with oculomotor apraxia type 4 (disorder) localisation d'une constatation (attribut) nerf périphérique (structure corporelle) true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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