1197479002: Dedicator of cytokinesis 2 deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\DOCK2 deficiency
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\DOCK2 deficiency

Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4696504019	Dedicator of cytokinesis 2 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
4696505018	Dedicator of cytokinesis 2 deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4696506017	DOCK2 deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
4696507014	A rare primary combined T and B cell immunodeficiency with characteristics of early-onset of recurrent, invasive viral and bacterial infections associated with T and B cell lymphopenia, functional defects in T and B cells, poor antibody response and thrombocytopenia. Depending on the type of infectious agent, variable clinical manifestations commonly include recurrent pneumonia, bronchiolitis, otitis media, meningoencephalitis, colitis, and diarrhoea, leading to fatal multiorgan failure in severe cases.	en	Definition	Active	Case sensitive	SNOMED CT core
4696508016	A rare primary combined T and B cell immunodeficiency with characteristics of early-onset of recurrent, invasive viral and bacterial infections associated with T and B cell lymphopenia, functional defects in T and B cells, poor antibody response and thrombocytopenia. Depending on the type of infectious agent, variable clinical manifestations commonly include recurrent pneumonia, bronchiolitis, otitis media, meningoencephalitis, colitis, and diarrhea, leading to fatal multiorgan failure in severe cases.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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