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719814009: X-linked mendelian susceptibility to mycobacterial disease (disorder)

Status: current, 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
3318005011 X-linked mendelian susceptibility to mycobacterial disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318006012 X-linked mendelian susceptibility to mycobacterial disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402221012 X-linked (XR) Mendelian susceptibility to mycobacterial diseases describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occurring in males. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402222017 X-linked (XR) Mendelian susceptibility to mycobacterial diseases describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterised by mycobacterial infections, occurring in males. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318005011 X-linked mendelian susceptibility to mycobacterial disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318006012 X-linked mendelian susceptibility to mycobacterial disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318007015 Describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. The clinical manifestation is mycobacterial infections occurring in males. Diagnosis is made by laboratory analysis. Low levels of IFN-gamma and IL-12 production by the patients' mononuclear cells upon phytohemagglutinin (PHA) are detected in those with an IKBKG mutation. In addition, an impaired IL-12 production by monocytes upon PHA stimulation by activated T cells is shown. Impaired NADPH activity is demonstrated in vitro in macrophages and B-cell lines in those with a CYBB mutation. A mutational analysis is necessary to identify the exact causative genes involved allowing for the implementation of a specific treatment plan. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3777387017 Describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. The clinical manifestation is mycobacterial infections occurring in males. Diagnosis is made by laboratory analysis. Low levels of IFN-gamma and IL-12 production by the patients' mononuclear cells upon phytohaemagglutinin (PHA) are detected in those with an IKBKG mutation. In addition, an impaired IL-12 production by monocytes upon PHA stimulation by activated T cells is shown. Impaired NADPH activity is demonstrated in vitro in macrophages and B-cell lines in those with a CYBB mutation. A mutational analysis is necessary to identify the exact causative genes involved allowing for the implementation of a specific treatment plan. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402221012 X-linked (XR) Mendelian susceptibility to mycobacterial diseases describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occurring in males. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402222017 X-linked (XR) Mendelian susceptibility to mycobacterial diseases describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterised by mycobacterial infections, occurring in males. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3388251001000110 Suszeptibilität für Mykobakteriosen, X-chromosomal de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
890621000172110 prédisposition mendélienne liée à l'X aux infections mycobactériennes fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
977731000172116 MSMD (mendelian susceptibility to mycobacterial disease) liée à l'X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
890621000172110 prédisposition mendélienne liée à l'X aux infections mycobactériennes fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
977731000172116 MSMD (mendelian susceptibility to mycobacterial disease) liée à l'X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3388251001000110 Suszeptibilität für Mykobakteriosen, X-chromosomal de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked mendelian susceptibility to mycobacterial disease (disorder) Due to Chromosomal disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked mendelian susceptibility to mycobacterial disease (disorder) Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked mendelian susceptibility to mycobacterial disease (disorder) Is a Immunodeficiency associated with chromosomal abnormality false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked mendelian susceptibility to mycobacterial disease (disorder) Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked mendelian susceptibility to mycobacterial disease (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked mendelian susceptibility to mycobacterial disease (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked mendelian susceptibility to mycobacterial disease (disorder) Is a Mendelian susceptibility to mycobacterial disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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