spinal muscular atrophy, distal, X-Linked 3

Preferred Label : spinal muscular atrophy, distal, X-Linked 3;

MeSH note : mutation in ATP7A;

MeSH synonym : spinal muscular atrophy, distal, X-Linked recessive;

Details

Origin ID

C564506;

UMLS CUI

C1845359;

Currated CISMeF NLP mapping
- Neuronopathy, distal hereditary motor, X-linked [OMIM Phenotype]
- X-linked distal spinal muscular atrophy 3 [DO Concept]
- X-linked distal spinal muscular atrophy type 3 [ORDO Disease]
DO Cross reference
- X-linked distal spinal muscular atrophy 3 [DO Concept]
MeSH term(s) associated for indexing
- genetic diseases, X-linked [MeSH Descriptor]
- muscular atrophy, spinal [MeSH Descriptor]
Record concept(s)
- spinal muscular atrophy, distal, X-Linked 3 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neuronopathy, distal hereditary motor, X-linked [OMIM Phenotype]
- X-linked distal spinal muscular atrophy 3 [DO Concept]
- X-linked distal spinal muscular atrophy type 3 [ORDO Disease]
- X-linked distal spinal muscular atrophy type 3 (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- X-linked distal spinal muscular atrophy type 3 (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients