Aicardi-Goutieres Syndrome 2

Preferred Label : Aicardi-Goutieres Syndrome 2;

NCIt synonyms : AGS2;

NCIt definition : An inherited, usually autosomal recessive condition cause by mutation(s) in the RNASEH2B gene, encoding ribonuclease H2 subunit B. Clinical features and onset may vary significantly, but is characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, and increased concentrations of CSF alpha-interferon.;

Details

Origin ID

C165673;

UMLS CUI

C3489724;

Currated CISMeF NLP mapping
- Aicardi Goutieres syndrome type 2 (disorder) [SNOMED CT concept]
- Aicardi-Goutieres syndrome 2 [MeSH concept]
- Aicardi-Goutières syndrome type 2 [ICD-11 More detail]
- Aicardi-goutieres syndrome 2 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aicardi-Goutieres syndrome 2 [MeSH concept]
- Aicardi-goutieres syndrome 2 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Aicardi-Goutieres syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- RNASEH2B Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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