Sifrim-Hitz-Weiss Syndrome

Preferred Label : Sifrim-Hitz-Weiss Syndrome;

NCIt synonyms : SIHIWES;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the CHD4 gene, encoding chromodomain helicase DNA binding protein 4. It is characterized by disordered intellectual development, with variable congenital defects.;

NCI Metathesaurus CUI : CL602134;

Details

Origin ID

C201595;

UMLS CUI

C4310688;

Currated CISMeF NLP mapping
- Sifrim-hitz-weiss syndrome [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sifrim-hitz-weiss syndrome [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
- CHD4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients