Aicardi-Goutieres syndrome

Preferred Label : Aicardi-Goutieres syndrome;

MeSH note : Encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis;

CISMeF synonym : Aicardi-Goutieres syndrome 2; pseudo-torch syndrome; Aicardi-Goutieres syndrome 1;

MeSH synonym : pseudotoxoplasmosis syndrome; cree encephalitis; aicardi goutieres syndrome; familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis; encephalopathy with basal ganglia calcification;

Details

Origin ID

C535607;

UMLS CUI

C0393591;

Automatic exact mappings (from CISMeF team)
- Aicardi-goutieres syndrome [OMIM phenotypic series]
- Congenital intrauterine infection-like syndrome [ICD-11 More detail]
- Congenital intrauterine infection-like syndrome [ORDO Disease]
- Congenital intrauterine infection-like syndrome (disorder) [SNOMED CT concept]
- Pseudo-torch syndrome [OMIM phenotypic series]
- S-antigen visual arrestin [ORDO Gene]
- Sango Language [NCIt concept]
Currated CISMeF NLP mapping
- Aicardi Goutieres syndrome [Disease (Nov.)]
- Aicardi Goutieres syndrome (disorder) [Inactive SNOMED CT concept]
- Aicardi Goutieres syndrome (disorder) [SNOMED CT concept]
- Aicardi-Goutieres syndrome [DO Concept]
- Aicardi-Goutieres syndrome [MedDRA Preferred Term]
- Aicardi-Goutières syndrome [ICD-11 More detail]
- Aicardi-Goutières syndrome [ORDO Disease]
- Aicardi-goutieres syndrome 1 [OMIM Phenotype]
MeSH term(s) associated for indexing
- autoimmune diseases of the nervous system [MeSH Descriptor]
- nervous system malformations [MeSH Descriptor]
ORDO relation(s)
- Aicardi-Goutières syndrome [ORDO Disease]
Record concept(s)
- Aicardi-Goutieres Syndrome 1 [MeSH concept]
- Aicardi-Goutieres syndrome [MeSH concept]
- Aicardi-Goutieres syndrome 2 [MeSH concept]
- Pseudo-TORCH syndrome [MeSH concept]
See also inter- (CISMeF)
- Autosomal recessive chorioretinopathy-microcephaly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aicardi Goutieres syndrome (disorder) [SNOMED CT concept]
- Aicardi-Goutieres syndrome [MedDRA Preferred Term]
- Aicardi-Goutières syndrome [ORDO Disease]
Validated automatic mappings to BTNT
- Aicardi-Goutieres Syndrome 1 [NCIt concept]
- Aicardi-Goutieres Syndrome 2 [NCIt concept]
- Aicardi-goutieres syndrome 2 [OMIM Phenotype]
- Pseudo-torch syndrome 1 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients