1172892009: Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Mendelian susceptibility to mycobacterial disease\Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor deficiency (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor deficiency (disorder)

\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Mendelian susceptibility to mycobacterial disease\Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor deficiency (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

4636360011 Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4636361010 Autosomal recessive primary immunodeficiency due to RORC mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4636362015 Autosomal recessive MSMD (mendelian susceptibility to mycobacterial disease) due to complete RORgamma receptor deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4636363013 Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4636364019 Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RORgamma receptor deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4636370013 A rare primary immunodeficiency with characteristics of increased susceptibility to infections with candida albicans and weakly pathogenic mycobacteria, such as mycobacterium bovis. Patients present in infancy with chronic mucocutaneous candidiasis of varying severity, disseminated mycobacterial disease, absence of palpable axillary and cervical lymph nodes, reduced thymus size and variable hepatosplenomegaly. The immunological phenotype comprises mild T-cell lymphopenia, absence of type 1 natural killer T-cells and mucosal-associated invariant T-cells, and low levels of type 3 innate lymphoid cells. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5343861000052112 autosomalt recessiv mendelsk känslighet för mykobakteriell sjukdom orsakad av total brist på ROR-gammareceptor sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor deficiency (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1
Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor deficiency (disorder)	Is a	Mendelian susceptibility to mycobacterial disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
4636360011	Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4636361010	Autosomal recessive primary immunodeficiency due to RORC mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4636362015	Autosomal recessive MSMD (mendelian susceptibility to mycobacterial disease) due to complete RORgamma receptor deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4636363013	Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4636364019	Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RORgamma receptor deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4636370013	A rare primary immunodeficiency with characteristics of increased susceptibility to infections with candida albicans and weakly pathogenic mycobacteria, such as mycobacterium bovis. Patients present in infancy with chronic mucocutaneous candidiasis of varying severity, disseminated mycobacterial disease, absence of palpable axillary and cervical lymph nodes, reduced thymus size and variable hepatosplenomegaly. The immunological phenotype comprises mild T-cell lymphopenia, absence of type 1 natural killer T-cells and mucosal-associated invariant T-cells, and low levels of type 3 innate lymphoid cells.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5343861000052112	autosomalt recessiv mendelsk känslighet för mykobakteriell sjukdom orsakad av total brist på ROR-gammareceptor	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)