Preferred Label : Combined Immunodeficiencies Associated with Syndromic Features;
NCIt synonyms : Combined Cellular and Humoral Immunodeficiencies Associated with Syndromic Features;
NCIt related terms : Immunodeficiencies Affecting Cellular and Humoral Immunity Associated with Syndromic
Features;
NCIt definition : A group of genetic immunodeficiency syndromes with unique clinical features and well-characterized
underlying immune defects, comprised of: CID with congenital thrombocytopenia; CID
due to DNA repair defects other than forms of SCID in category I; CID due to thymic
defects with additional congenital anomalies; CID with immunoosseous dysplasias; Hyper-IgE
syndromes (HIES); CID due to defects of vitamin B12 and folate metabolism; Anhidrotic
ectodermal dysplasia with immunodeficiency; CID due to calcium channel defects; and
various other CID with unique clinical phenotypes.;
NCI Metathesaurus CUI : CL1642661;
Origin ID : C176596;
UMLS CUI : C5447321;
Semantic type(s)
- disease_has_primary_anatomic_site
