Rett Syndrome, Congenital Variant

Preferred Label : Rett Syndrome, Congenital Variant;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the FOXG1 gene, encoding forkhead box protein G1. It is the most severe form of Rett syndrome, and typically manifests within the first three months of life.;

Details

Origin ID

C176903;

UMLS CUI

C3150705;

Currated CISMeF NLP mapping
- FOXG1 syndrome (disorder) [SNOMED CT concept]
- Rett syndrome, congenital variant [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- FOXG1 syndrome (disorder) [SNOMED CT concept]
- Rett syndrome, congenital variant [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- FOXG1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients