725431001: Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 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 partial interferon gamma receptor 1 deficiency (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 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 partial interferon gamma receptor 1 deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3442833012 Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3442834018 Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3442835017 Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial IFNgammaR1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3442836016 A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) with characteristics of a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. These infections are recurrent but less severe than those seen in MSMD due to complete IFN-gammaR1 and IFN-gammaR2 deficiencies. Caused by homozygous mutations in the IFNGR1 gene on chromosome 6q23-q24 that encodes the IFN-gamma receptor ligand binding chain. The most common mutation is, by far, I87T. This mutation leads to the expression of IFN-gamma receptors on the cell surface with no signal transduction capacity and they therefore only show a partial response to IFN-gamma. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

9988661000172117 susceptibilité mendélienne autosomique récessive à attraper une maladie causée par une mycobactérie due à un déficit partiel en récepteur 1 de l'IFN (interféron) gamma fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

9988671000172114 susceptibilité mendélienne autosomique récessive à attraper une maladie mycobactérienne due à un déficit partiel en récepteur 1 de l'interféron gamma fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4594581000172114 autosomaal recessieve 'mendelian susceptibility to mycobacterial disease' door partiële IFNGR1-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4594591000172112 autosomaal recessieve mendeliaanse gevoeligheid voor mycobacteriële ziekte door partiële deficientie van interferon-gammareceptor-1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4594601000172119 autosomaal recessieve MSMD door partiële IFN-gamma-R1-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4594611000172116 autosomaal recessieve mendeliaanse gevoeligheid voor mycobacteriële ziekte door partiële interferon-gamma-receptor-1-deficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian 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 partial interferon gamma receptor 1 deficiency (disorder)	Due to	Chromosomal disorder (disorder)	false	Inferred relationship	Some	1
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder)	Is a	Immunodeficiency associated with chromosomal abnormality	false	Inferred relationship	Some
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder)	Is a	Mendelian susceptibility to mycobacterial disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3442833012	Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3442834018	Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3442835017	Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial IFNgammaR1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3442836016	A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) with characteristics of a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. These infections are recurrent but less severe than those seen in MSMD due to complete IFN-gammaR1 and IFN-gammaR2 deficiencies. Caused by homozygous mutations in the IFNGR1 gene on chromosome 6q23-q24 that encodes the IFN-gamma receptor ligand binding chain. The most common mutation is, by far, I87T. This mutation leads to the expression of IFN-gamma receptors on the cell surface with no signal transduction capacity and they therefore only show a partial response to IFN-gamma. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
9988661000172117	susceptibilité mendélienne autosomique récessive à attraper une maladie causée par une mycobactérie due à un déficit partiel en récepteur 1 de l'IFN (interféron) gamma	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
9988671000172114	susceptibilité mendélienne autosomique récessive à attraper une maladie mycobactérienne due à un déficit partiel en récepteur 1 de l'interféron gamma	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4594581000172114	autosomaal recessieve 'mendelian susceptibility to mycobacterial disease' door partiële IFNGR1-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4594591000172112	autosomaal recessieve mendeliaanse gevoeligheid voor mycobacteriële ziekte door partiële deficientie van interferon-gammareceptor-1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4594601000172119	autosomaal recessieve MSMD door partiële IFN-gamma-R1-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4594611000172116	autosomaal recessieve mendeliaanse gevoeligheid voor mycobacteriële ziekte door partiële interferon-gamma-receptor-1-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)