jankovic rivera syndrome

Preferred Label : jankovic rivera syndrome;

MeSH synonym : hereditary myoclonus and progressive distal muscular atrophy; myoclonus, hereditary, with progressive distal muscular atrophy;

Détails

Origin ID

C537563;

UMLS CUI

C1834569;

Currated CISMeF NLP mapping
- Spinal muscular atrophy with progressive myoclonic epilepsy [OMIM Phenotype]
- Spinal muscular atrophy with progressive myoclonic epilepsy (disorder) [SNOMED CT concept]
- Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [ORDO Disease]
- spinal muscular atrophy with progressive myoclonic epilepsy [Disease (Nov.)]
- spinal muscular atrophy with progressive myoclonic epilepsy [DO Concept]
DO Cross reference
- spinal muscular atrophy with progressive myoclonic epilepsy [DO Concept]
MeSH term(s) associated for indexing
- distal myopathies [MeSH Descriptor]
- myoclonus [MeSH Descriptor]
Record concept(s)
- Jankovic Rivera syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinal muscular atrophy with progressive myoclonic epilepsy [OMIM Phenotype]
- Spinal muscular atrophy with progressive myoclonic epilepsy (disorder) [SNOMED CT concept]
- Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [ORDO Disease]
- spinal muscular atrophy with progressive myoclonic epilepsy [Disease (Nov.)]
- spinal muscular atrophy with progressive myoclonic epilepsy [DO Concept]

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