Combined immunodeficiency due to DOCK8 deficiency

Preferred Label : Combined immunodeficiency due to DOCK8 deficiency;

ICD-11 definition : Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E.;

ICD-11 synonym : CID - [combined immunodeficiency] due to DOCK8 - [dedicator of cytokinesis 8 protein] deficiency; CID due to DOCK8 deficiency;

Details

Origin ID

136043326;

UMLS CUI

C4289709;

CISMeF manual mappings
- DOCK8 Deficiency [NCIt concept]
Currated CISMeF NLP mapping
- Combined immunodeficiency due to DOCK8 deficiency [ORDO Disease]
- DOCK8 immunodeficiency syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined immunodeficiency due to DOCK8 deficiency [ORDO Disease]
- DOCK8 Deficiency [NCIt concept]
- DOCK8 immunodeficiency syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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