771517009: Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3706599010	Severe combined immunodeficiency due to CARD11 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706600013	Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706601012	Severe combined immunodeficiency due to CARD11 (caspase recruitment domain family member 11) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706602017	Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706603010	A rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections. Caused by homozygous mutation in the CARD11 gene on chromosome 7p22.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3777458017	A rare combined T and B cell immunodeficiency characterised by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo to agammaglobulinaemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections. Caused by homozygous mutation in the CARD11 gene on chromosome 7p22.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706599010	Severe combined immunodeficiency due to CARD11 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706600013	Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706601012	Severe combined immunodeficiency due to CARD11 (caspase recruitment domain family member 11) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706602017	Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706603010	A rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections. Caused by homozygous mutation in the CARD11 gene on chromosome 7p22.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3777458017	A rare combined T and B cell immunodeficiency characterised by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo to agammaglobulinaemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections. Caused by homozygous mutation in the CARD11 gene on chromosome 7p22.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3396621001000116	Immundefekt, kombinierter schwerer, durch CARD11-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5521661000241112	immunodéficience combinée sévère due à un déficit de recrutement par la caspase 11	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5521661000241112	immunodéficience combinée sévère due à un déficit de recrutement par la caspase 11	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3396621001000116	Immundefekt, kombinierter schwerer, durch CARD11-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

REPLACED BY association reference set (foundation metadata concept)

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