1172892009: Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation (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 mutation (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation (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 mutation (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
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
5033731012	Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5033732017	Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RORgamma receptor mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5033733010	Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5033734016	Autosomal recessive MSMD (mendelian susceptibility to mycobacterial disease) due to complete RORgamma receptor mutation	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
10060911000172116	prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit complet du récepteur ROR gamma	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10060921000172114	prédisposition mendélienne autosomique récessive à une maladie mycobactérienne due à une mutation complète du récepteur C orphelin lié au RAR	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10060931000172112	prédisposition mendélienne autosomique récessive à attraper une maladie causée par une mycobactérie due à une mutation complète du gène RORC (RAR related orphan receptor C receptor)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7249521000172118	autosomaal recessieve mendeliaanse gevoeligheid voor mycobacteriële ziekte door volledige deficiëntie van RAR-gerelateerde weesreceptor C	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7249531000172115	autosomaal recessieve primaire immunodeficiëntie door RORC-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7249541000172110	autosomaal recessieve MSMD door volledige deficiëntie van RORgamma-receptor	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7249551000172112	autosomaal recessieve 'mendelian susceptibility to mycobacterial disease' door volledige deficiëntie van RAR-gerelateerde weesreceptor C	nl	Synonym (core metadata concept)	Active	Only initial character 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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