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

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined immunodeficiency due to MALT1 deficiency
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Combined immunodeficiency due to MALT1 deficiency

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723689014	Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3723690017	Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3723691018	Combined immunodeficiency due to MALT1 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3723692013	A rare genetic form of primary immunodeficiency with characteristics of growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections. Caused by homozygous mutation in the MALT1 gene on chromosome 18q21.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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