Rigid Spine Muscular Dystrophy 1

Preferred Label : Rigid Spine Muscular Dystrophy 1;

NCIt synonyms : RSS; Rigid Spine Syndrome; RSMD1;

NCIt definition : An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage.;

Details

Origin ID

C126691;

UMLS CUI

C0410180;

Automatic exact mappings (from CISMeF team)
- Silver-russell syndrome 1 [OMIM Phenotype]
- selenoprotein N [ORDO Gene]
- webcast [MeSH publication type]
Currated CISMeF NLP mapping
- Congenital myopathy 3 with rigid spine [OMIM Phenotype]
- rigid spine muscular dystrophy 1 [DO Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
False automatic mappings
- RSS [MeSH concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt 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 syndrome [ORDO Disease]
- Rigid spine syndrome [PASCAL descriptor]
- Rigid spine syndrome [MeSH concept]
- rigid spine muscular dystrophy 1 [DO Concept]
- rigid spine syndrome [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Eichsfeld type congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Rigid spine syndrome [ORDO Disease]
- Rigid spine syndrome [PASCAL descriptor]
- Rigid spine syndrome [MeSH concept]
- Rigid spine syndrome [ICD-11 More detail]
- rigid spine syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Peripheral Nerve [NCIt concept]
disease_mapped_to_gene
- SELENON Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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