wells jankovic syndrome

Preferred Label : wells jankovic syndrome;

MeSH synonym : familial spastic paraparesis and deafness; spastic paraparesis and deafness;

Origin ID

C536692;

UMLS CUI

C2931291;

Automatic exact mappings (from CISMeF team)
- Spastic paraparesis - deafness [ICD-11 More detail]
Currated CISMeF NLP mapping
- Spastic paraparesis and deafness [OMIM Phenotype]
- Spastic paraparesis co-occurrent with deafness (disorder) [SNOMED CT concept]
- Spastic paraparesis-deafness syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- adrenoleukodystrophy [MeSH Descriptor]
- deafness [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- muscle spasticity [MeSH Descriptor]
- paralysis [MeSH Descriptor]
Record concept(s)
- Wells Jankovic syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spastic paraparesis and deafness [OMIM Phenotype]
- Spastic paraparesis co-occurrent with deafness (disorder) [SNOMED CT concept]
- Spastic paraparesis-deafness syndrome [ORDO Disease]