spastic paraplegia 20, autosomal recessive

Preferred Label : spastic paraplegia 20, autosomal recessive;

MeSH synonym : spastic paraparesis, childhood onset, with distal muscle wasting; spastic paraplegia, autosomal recessive, troyer type; troyer syndrome; Cross-McKusick syndrome; spastic paraplegia with distal muscle wasting; spastic paraparesis, Childhood-Onset, with distal muscle wasting;

Détails

Origin ID

C536858;

UMLS CUI

C0393559;

Automatic exact mappings (from CISMeF team)
- Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome (disorder) [SNOMED CT concept]
- lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome [SNOMED Notion]
CISMeF manual mappings
- Autosomal recessive spastic paraplegia type 20 [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 20 [ICD-11 More detail]
- Spastic paraplegia 20, autosomal recessive [OMIM Phenotype]
- Troyer syndrome [DO Concept]
- Troyer syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- spastic paraplegia, hereditary [MeSH Descriptor]
Record concept(s)
- Spastic paraplegia 20, autosomal recessive [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 20 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 20 [ICD-11 More detail]
- Spastic paraplegia 20, autosomal recessive [OMIM Phenotype]
- Troyer syndrome [DO Concept]
- Troyer syndrome (disorder) [SNOMED CT concept]

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