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

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary cancer-predisposing syndrome\Combined immunodeficiency due to CARMIL2 deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined immunodeficiency due to CARMIL2 deficiency
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Combined immunodeficiency due to CARMIL2 deficiency
• \Disorder of hematopoietic cell proliferation (disorder)\Lymphoproliferative disorder\Combined immunodeficiency due to CARMIL2 deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4667400012	Combined immunodeficiency due to CARMIL2 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4667401011	Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4667402016	Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4667403014	Combined immunodeficiency due to RLTPR deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4667405019	A rare immune dysregulation disease with immunodeficiency with characteristics of infantile or childhood onset of a variable phenotype including recurrent/persistent bacterial, fungal and viral infections with involvement of the skin, lower respiratory tract, gastrointestinal tract, eczema, allergies and inflammatory bowel disease. Epstein-Barr related smooth muscle neoplasms have also been reported. Immunophenotyping shows decreased Treg counts, as well as a deficient CD3/CD28 co-stimulation response in CD4+ and CD8+ T-cells.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10683011000172117	immunodéficience combinée due à un déficit en CARMIL2 (capping protein regulator and myosin 1 linker 2)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10683021000172110	déficience immunitaire combinée due à un déficit en CARMIL2 (capping protein regulator and myosin 1 linker 2)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10683031000172113	déficit immunitaire combiné par déficit en RLTPR (RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7424991000172111	gecombineerde immunodeficiëntie door CARMIL2-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7425001000172119	gecombineerde immuundeficiëntie door RLTPR-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7425011000172116	gecombineerde immunodeficiëntie door deficiëntie van 'capping protein regulator and myosin 1 linker 2'	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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