lethal arthrogryposis with anterior horn cell disease

Preferred Label : lethal arthrogryposis with anterior horn cell disease;

MeSH note : aka LAAHD; mutations in GLE1;

Origin ID

C567502;

UMLS CUI

C2678471;

Currated CISMeF NLP mapping
- Arthrogryposis-anterior horn cell disease syndrome [ORDO Disease]
- Congenital arthrogryposis with anterior horn cell disease [OMIM Phenotype]
- Lethal arthrogryposis - anterior horn cell disease [ICD-11 More detail]
- Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- arthrogryposis [MeSH Descriptor]
- motor neuron disease [MeSH Descriptor]
Record concept(s)
- lethal arthrogryposis with anterior horn cell disease [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrogryposis-anterior horn cell disease syndrome [ORDO Disease]
- Congenital arthrogryposis with anterior horn cell disease [OMIM Phenotype]
- Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) [SNOMED CT concept]