Deafness-dystonia optic atrophy syndrome

Preferred Label : Deafness-dystonia optic atrophy syndrome;

ICD-11 definition : An X-linked neurodegenerative syndrome characterized by prelingual or postlingual sensorineural hearing loss, progressive dystonia and visual impairment. In addition, psychiatric symptoms, cognitive impairment and behavioural problems may appear.;

ICD-11 synonym : Mohr-Tranebjærg syndrome;

ICD-11 inclusion : Mohr-Tranebjærg syndrome;

Details

Origin ID

1905672554;

UMLS CUI

C0796074;

Currated CISMeF NLP mapping
- Deafness-dystonia-optic neuronopathy syndrome (disorder) [SNOMED CT concept]
- Mohr-Tranebjaerg syndrome [ORDO Disease]
- Mohr-Tranebjaerg syndrome [MeSH Supplementary Concept]
- Mohr-Tranebjaerg syndrome [MeSH concept]
- Mohr-tranebjaerg syndrome [OMIM Phenotype]
- deafness-dystonia-optic neuronopathy syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness-dystonia-optic neuronopathy syndrome (disorder) [SNOMED CT concept]
- Mohr-Tranebjaerg syndrome [MeSH concept]
- Mohr-Tranebjaerg syndrome [MeSH Supplementary Concept]
- Mohr-Tranebjaerg syndrome [ORDO Disease]
- Mohr-tranebjaerg syndrome [OMIM Phenotype]
- deafness-dystonia-optic neuronopathy syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients