768560008: Melanoma differentiation-associated gene 5 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Melanoma differentiation-associated gene 5 deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3686052012	MDA5 (melanoma differentiation-associated gene 5) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686053019	Melanoma differentiation-associated gene 5 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686054013	IFIH1 (interferon induced with helicase C domain 1) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686055014	Melanoma differentiation-associated gene 5 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686056010	MDA5 deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686057018	An immunodeficiency disorder with onset in infancy that leads to recurrent, severe infections of the respiratory tract. Infections are most frequently caused by rhinovirus. Respiratory syncytial virus and the influenza virus may also cause recurrent infections. Infection may require hospital admission and repeated infection can lead to chronic lung disease. Infections usually become less frequent with maturity. Caused by mutations in the IFIH1 gene, which provides instructions for making the MDA5 protein. Deficiency of MDA5 protein activity reduces interferon production in response to RNA-containing viruses. The inheritance pattern is unclear. In some cases, the condition seems to follow an autosomal recessive pattern, in other cases it appears that the condition is inherited in an autosomal dominant pattern.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686052012	MDA5 (melanoma differentiation-associated gene 5) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686053019	Melanoma differentiation-associated gene 5 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686054013	IFIH1 (interferon induced with helicase C domain 1) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686055014	Melanoma differentiation-associated gene 5 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686056010	MDA5 deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686057018	An immunodeficiency disorder with onset in infancy that leads to recurrent, severe infections of the respiratory tract. Infections are most frequently caused by rhinovirus. Respiratory syncytial virus and the influenza virus may also cause recurrent infections. Infection may require hospital admission and repeated infection can lead to chronic lung disease. Infections usually become less frequent with maturity. Caused by mutations in the IFIH1 gene, which provides instructions for making the MDA5 protein. Deficiency of MDA5 protein activity reduces interferon production in response to RNA-containing viruses. The inheritance pattern is unclear. In some cases, the condition seems to follow an autosomal recessive pattern, in other cases it appears that the condition is inherited in an autosomal dominant pattern.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6377081000241118	déficit en MDA5 (melanoma differentiation-associated gene 5)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6377091000241116	déficit du gène IFIH1 (interferon induced with helicase C domain 1)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6377081000241118	déficit en MDA5 (melanoma differentiation-associated gene 5)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6377091000241116	déficit du gène IFIH1 (interferon induced with helicase C domain 1)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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