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718232007: 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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 3
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder) Due to anomalie chromosomique true Inferred relationship Some 2
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder) est un(e) (attribut) Bacterial infectious disease true Inferred relationship Some
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder) est un(e) (attribut) Immunodeficiency associated with chromosomal abnormality true Inferred relationship Some
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder) est un(e) (attribut) infection suppurée true Inferred relationship Some
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder) est défini par la manifestation de (attribut) Immune system finding false Inferred relationship Some
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder) morphologie associée (attribut) Suppurative inflammation true Inferred relationship Some 4
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder) Causative agent Pyogenic bacterium true Inferred relationship Some 4
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder) Pathological process (attribute) Infectious process (qualifier value) true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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