1197205005: Combined immunodeficiency due to dedicator of cytokinesis 8 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined immunodeficiency due to DOCK8 deficiency
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Combined immunodeficiency due to DOCK8 deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4695422010	Combined immunodeficiency due to DOCK8 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4695423017	Combined immunodeficiency due to dedicator of cytokinesis 8 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695424011	Combined immunodeficiency due to dedicator of cytokinesis 8 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695441013	Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695442018	DOCK8 immunodeficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4695445016	A form of T and B cell immunodeficiency with characteristics of recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE). Patients present in childhood with symptoms including atopic dermatitis, severe food and environmental allergies, asthma, recurrent upper and lower respiratory tract infections including otitis media, recurrent sinusitis, bronchitis and pneumonia, and extensive cutaneous viral and bacterial infections. Caused by homozygous or compound heterozygous deletions and point mutations in the DOCK8 gene (9p24), which leads to an absence of DOCK8 protein in lymphocytes, resulting in low absolute T and B lymphocyte counts, mild-to-moderate eosinophilia and very high levels of serum IgE. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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