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773488000: Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5405264012 Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5405265013 Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterised by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723689014 Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723690017 Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723691018 Combined immunodeficiency due to MALT1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5866681000241119 déficit immunitaire combiné par déficit en MALT1 (mucosa associated lymphoid tissue lymphoma translocation gene 1) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5866691000241117 déficience immunitaire combinée due à un déficit en MALT1 (mucosa associated lymphoid tissue lymphoma translocation gene 1) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5866701000241117 immunodéficience combinée due à un déficit en MALT1 (mucosa associated lymphoid tissue lymphoma translocation gene 1) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3396321001000110 Immundefekt, kombinierter, durch MALT1-Mangel 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
Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections. Is a Combined immunodeficiency disease true Inferred relationship Some
Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections. Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections. Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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