rigid spine syndrome

Preferred Label : rigid spine syndrome;

MeSH synonym : minicore myopathy, severe classic form; multicore myopathy, severe classic form; rigid spine muscular dystrophy-1; muscular dystrophy, congenital, merosin positive with early spine rigidity; desmin-related myopathies with mallory bodies; multiminicore disease, severe classic form; myopathy, Sepn1-Related; rigid spine muscular dystrophy 1; Desmin-Related myopathy with mallory bodies; muscular dystrophy, congenital, eichsfeld type; muscular dystrophy, congenital, Merosin-Positive, with early spine rigidity;

Details

Origin ID

C535683;

UMLS CUI

C0410180;

Automatic exact mappings (from CISMeF team)
- Eichsfeld type congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Rigid spine syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Rigid spine syndrome [PASCAL descriptor]
- Rigid spine syndrome [ORDO Disease]
DO Cross reference
- rigid spine muscular dystrophy 1 [DO Concept]
MeSH term(s) associated for indexing
- mallory bodies [MeSH Descriptor]
- muscular dystrophies [MeSH Descriptor]
- scoliosis [MeSH Descriptor]
ORDO relation(s)
- Rigid spine syndrome [ORDO Disease]
Record concept(s)
- Rigid spine syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital myopathy 3 with rigid spine [OMIM Phenotype]
- Eichsfeld type congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Rigid Spine Muscular Dystrophy 1 [NCIt concept]
- Rigid spine syndrome [ORDO Disease]
- Rigid spine syndrome [PASCAL descriptor]
- rigid spine muscular dystrophy 1 [DO Concept]
Validated automatic mappings to BTNT
- Congenital myopathy 3 with rigid spine [OMIM Phenotype]
- Rigid Spine Muscular Dystrophy 1 [NCIt concept]
- rigid spine muscular dystrophy 1 [DO Concept]

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