spastic paraplegia 9, autosomal dominant

Preferred Label : spastic paraplegia 9, autosomal dominant;

MeSH synonym : cataracts, motor neuronopathy, short stature and skeletal abnormalities; autosomal dominant spastic paraparesis; bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy; cataracts with motor neuronopathy, short stature, and skeletal abnormalities; spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux;

Détails

Origin ID

C536868;

UMLS CUI

C1832669;

Automatic exact mappings (from CISMeF team)
- Spastic paraplegia 9 (autosomal dominant) [ORDO Gene]
- hereditary spastic paraplegia 9A [DO Concept]
CISMeF manual mappings
- Autosomal dominant spastic paraplegia type 9 [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal dominant spastic paraplegia type 9 [ICD-11 More detail]
- Spastic paraplegia 9a, autosomal dominant [OMIM Phenotype]
MeSH term(s) associated for indexing
- bone and bones [MeSH Descriptor]
- cataract [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- spastic paraplegia, hereditary [MeSH Descriptor]
ORDO relation(s)
- Autosomal dominant spastic paraplegia type 9 [ORDO Disease]
Record concept(s)
- Spastic paraplegia 9, autosomal dominant [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant spastic paraplegia type 9 [ORDO Disease]
- Spastic paraplegia 9a, autosomal dominant [OMIM Phenotype]
Validated automatic mappings to BTNT
- Autosomal dominant spastic paraplegia type 9A (disorder) [SNOMED CT concept]

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