spastic paraplegia 39, autosomal recessive

Preferred Label : spastic paraplegia 39, autosomal recessive;

MeSH note : mutation in PNPLA6;

MeSH synonym : NTE-Related motor neuron disorder; SPG39; NTEMND;

Details

Origin ID

C567433;

UMLS CUI

C2677586;

Automatic exact mappings (from CISMeF team)
- patatin like phospholipase domain containing 6 [ORDO Gene]
Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 39 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 39 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 39 (disorder) [SNOMED CT concept]
- Spastic paraplegia 39, autosomal recessive [OMIM Phenotype]
- hereditary spastic paraplegia 39 [DO Concept]
MeSH term(s) associated for indexing
- spastic paraplegia, hereditary [MeSH Descriptor]
Record concept(s)
- spastic paraplegia 39, autosomal recessive [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 39 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 39 (disorder) [SNOMED CT concept]
- Spastic paraplegia 39, autosomal recessive [OMIM Phenotype]

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