immunodeficiency syndrome, variable

Preferred Label : immunodeficiency syndrome, variable;

MeSH note : Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16;

MeSH synonym : immunodeficiency-centromeric instability-facial anomalies syndrome; centromeric instability, immunodeficiency syndrome; ICF syndrome;

Détails

Origin ID

C537362;

UMLS CUI

C0398788;

CISMeF manual mappings
- ICF syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (disorder) [SNOMED CT concept]
- Immunodeficiency - centromeric region instability - facial anomalies syndrome [ICD-11 More detail]
- Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [OMIM Phenotype]
- immunodeficiency, centromere instability and facial anomalies syndrome [Disease (Nov.)]
- immunodeficiency-centromeric instability-facial anomalies syndrome [DO Concept]
MeSH term(s) associated for indexing
- Primary Immunodeficiency Diseases [MeSH Descriptor]
- face [MeSH Descriptor]
- immunologic deficiency syndromes [MeSH Descriptor]
Record concept(s)
- Immunodeficiency syndrome, variable [MeSH concept]
See also inter- (CISMeF)
- Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (disorder) [SNOMED CT concept]
- ICF syndrome [ORDO Disease]
- Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [OMIM Phenotype]
- immunodeficiency, centromere instability and facial anomalies syndrome [Disease (Nov.)]
- immunodeficiency-centromeric instability-facial anomalies syndrome [DO Concept]

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