1186712009: Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary cancer-predisposing syndrome\Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency
• \Disorder of hematopoietic cell proliferation\Lymphoproliferative disorder\Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Nov 2021. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4667400012	Combined immunodeficiency due to CARMIL2 deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4667401011	Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4667402016	Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4667403014	Combined immunodeficiency due to RLTPR deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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