Aicardi-Goutieres syndrome 5

Preferred Label : Aicardi-Goutieres syndrome 5;

MeSH synonym : Aicardi-Goutieres syndrome, autosomal dominant;

Origin ID

C535608;

UMLS CUI

C2749659;

Automatic exact mappings (from CISMeF team)
- SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 [ORDO Gene]
- SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 [HGNC gene]
Currated CISMeF NLP mapping
- Aicardi Goutieres syndrome type 5 (disorder) [SNOMED CT concept]
- Aicardi-Goutieres Syndrome 5 [NCIt concept]
- Aicardi-Goutières syndrome type 5 [ICD-11 More detail]
- Aicardi-goutieres syndrome 5 [OMIM Phenotype]
MeSH term(s) associated for indexing
- autoimmune diseases of the nervous system [MeSH Descriptor]
- nervous system malformations [MeSH Descriptor]
Record concept(s)
- Aicardi-Goutieres syndrome 5 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aicardi-Goutieres Syndrome 5 [NCIt concept]
- Aicardi-goutieres syndrome 5 [OMIM Phenotype]