1229942009: Severe combined immunodeficiency due to coronin 1A deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency due to CORO1A deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency due to CORO1A deficiency
• \Disorder of immune function\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency due to CORO1A deficiency
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency due to CORO1A deficiency
• \Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency due to CORO1A deficiency
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency due to CORO1A deficiency
• \Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Severe combined immunodeficiency due to CORO1A deficiency

Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5065852019	Severe combined immunodeficiency due to CORO1A deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5065853012	Severe combined immunodeficiency due to coronin 1A deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5065854018	Severe combined immunodeficiency due to coronin 1A deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5065855017	A rare monogenic primary immunodeficiency disorder with characteristics of lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. Caused by caused by homozygous or compound heterozygous mutation in the CORO1A gene on chromosome 16p11.	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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