Ocular motor apraxia

Preferred Label : Ocular motor apraxia;

CISMeF acronym : COMA;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Oculomotor apraxia, cogan type; Saccade initiation failure, congenital; COMA;

Description : Congenital oculomotor apraxia, first reported by Cogan (1952), is characterized by (1) defective or absent horizontal voluntary eye movements, and (2) defective or absent horizontal ocular attraction movements. Oculomotor apraxia occurs in ataxia-telangiectasia (208900). Also see ataxia-oculomotor apraxia syndrome (208920; 606002). Oculomotor apraxia has been observed in the neuronopathic form of Gaucher disease (type III; 231000) (Erikson and Wahlberg, 1985; Gross-Tsur et al., 1989).;

Inheritance : Autosomal recessive;

Prefixed ID : %257550;

Détails

Origin ID

257550;

UMLS CUI

C0543874;

Automatic exact mappings (from CISMeF team)
- Apraxia, oculomotor, Cogan type [MeSH concept]
- COMA [WHO-ART Preferred Term]
- Cogan's oculomotor apraxia [MedDRA LLT]
- Coma [PASCAL descriptor]
- Coma [ICD-11 Subcategory]
- Coma [ICD-10 Sub-category]
- Coma [ICD-9 code]
- Coma [HPO term]
- Coma [ICNP subject]
- Coma [MedDRA Preferred Term]
- Coma [NCIt concept]
- Coma (disorder) [SNOMED CT concept]
- Coma NOS [MedDRA LLT]
- Comatose [LOINC component]
- Ocular motor apraxia Cogan type (disorder) [SNOMED CT concept]
- Ocular motor apraxia, Cogan type [ORDO Disease]
- apraxia, oculomotor, cogan type [MeSH Supplementary Concept]
- cogan's syndrome [SNOMED Notion]
- coma [MedlinePlus Topic]
- coma [Artificial nutrition thesaurus concept]
- coma [ICPC-2 Rubric]
- coma [MeSH Descriptor]
- coma [MeSH concept]
- coma, nos [SNOMED Notion]
- traumatic brain injury [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Oculomotor apraxia [HPO term]
- Oculomotor apraxia (disorder) [SNOMED CT concept]
- ocular motor apraxia [MeSH concept]
- oculomotor apraxia [Disease (Nov.)]
False automatic mappings
- coma [Disease (Nov.)]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Defective or absent horizontal voluntary eye movements [HPO term]
- Horizontal opticokinetic nystagmus [HPO term]
- Jerky head movements [HPO term]
- Nephronophthisis [HPO term]
- Oculomotor apraxia [HPO term]
ORDO concept(s)
- Ocular motor apraxia, Cogan type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Apraxia, oculomotor, Cogan type [MeSH concept]
- Cogan's oculomotor apraxia [MedDRA LLT]
- Congenital oculomotor apraxia [MedDRA Preferred Term]
- Ocular motor apraxia Cogan type (disorder) [SNOMED CT concept]
- Ocular motor apraxia, Cogan type [ORDO Disease]
- apraxia, oculomotor, cogan type [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients