Mohr-Tranebjaerg syndrome

Preferred Label : Mohr-Tranebjaerg syndrome;

MeSH synonym : deafness dystonia syndrome; deafness-dystonia-optic atrophy syndrome; deafness (DFN-1) dystonia, mental deficiency and blindness; deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency; Dystonia-Deafness syndrome; Deafness-Dystonia-Optic neuronopathy syndrome; Deafness-Dystonia syndrome; Mohr-Tranebjærg syndrome;

Details

Origin ID

C535808;

UMLS CUI

C0796074;

Currated CISMeF NLP mapping
- Deafness-dystonia optic atrophy syndrome [ICD-11 More detail]
- Deafness-dystonia-optic neuronopathy syndrome (disorder) [SNOMED CT concept]
- Mohr-Tranebjaerg syndrome [ORDO Disease]
- Mohr-tranebjaerg syndrome [OMIM Phenotype]
- deafness-dystonia-optic neuronopathy syndrome [DO Concept]
DO Cross reference
- deafness-dystonia-optic neuronopathy syndrome [DO Concept]
MeSH term(s) associated for indexing
- deaf-blind disorders [MeSH Descriptor]
- dystonia [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- optic atrophy [MeSH Descriptor]
ORDO relation(s)
- Mohr-Tranebjaerg syndrome [ORDO Disease]
Record concept(s)
- Mohr-Tranebjaerg syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness-dystonia optic atrophy syndrome [ICD-11 More detail]
- Deafness-dystonia-optic neuronopathy syndrome (disorder) [SNOMED CT concept]
- Mohr-Tranebjaerg syndrome [ORDO Disease]
- Mohr-tranebjaerg syndrome [OMIM Phenotype]
- deafness-dystonia-optic neuronopathy syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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