Atypical Hemolytic Uremic Syndrome-4

Preferred Label : Atypical Hemolytic Uremic Syndrome-4;

NCIt synonyms : AHUS4;

NCIt definition : An autosomal dominant subtype of atypical hemolytic uremic syndrome caused by mutation(s) in the CFB gene, encoding complement factor B.;

NCI Metathesaurus CUI : CL1642915;

Details

Origin ID

C176902;

UMLS CUI

C5444421;

Automatic exact mappings (from CISMeF team)
- Hemolytic uremic syndrome, atypical, susceptibility to, 4 [OMIM Phenotype]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- CFB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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