718232007: Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Immunodeficiency associated with chromosomal abnormality\Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder)
• \Inflammatory disorder\Infection - suppurative\Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder)
• \Infectious disease\Infection - suppurative\Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder)
• \Infectious disease\Bacterial infectious disease\Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3311614010	Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3311615011	Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3311616012	Pyogenic bacterial infection due to MyD88 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3311617015	A primary immunodeficiency with characteristics of increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease. Only 24 cases have been reported. The disease presents in childhood with recurrent, life-threatening, pyogenic bacterial infections. This predisposition to life-threatening infections seems transient and lasts during the first 10 years of life in the cases reported so far. Myeloid differentiation primary response 88 (MyD88) deficiency results from mutations in the MYD88 gene (3p22-3p21.3) which generally abolishes the cytokine responses of the blood cells. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3877511000052114	pyogen bakterieinfektion orsakad av brist på MyD88-protein	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

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