783007005: Recurrent Neisseria infection due to factor D deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Recurrent Neisseria infection due to factor D deficiency (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Recurrent Neisseria infection due to factor D deficiency (disorder)
• \Disorder of immune function (disorder)\Hereditary disorder of immune system\Recurrent Neisseria infection due to factor D deficiency (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Disorder of complement\Complement deficiency disease\Complement regulatory factor defect\Recurrent Neisseria infection due to factor D deficiency (disorder)
• \Disorder of body system\Disorder of immune structure\Complement regulatory factor defect\Recurrent Neisseria infection due to factor D deficiency (disorder)
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Recurrent Neisseria infection due to factor D deficiency (disorder)
• \Recurrent disease\Recurrent infectious disease (disorder)\Recurrent bacterial infection (disorder)\Recurrent Neisseria infection due to factor D deficiency (disorder)
• \Infectious disease\Recurrent infectious disease (disorder)\Recurrent bacterial infection (disorder)\Recurrent Neisseria infection due to factor D deficiency (disorder)
• \Infectious disease\Bacterial infectious disease\Recurrent bacterial infection (disorder)\Recurrent Neisseria infection due to factor D deficiency (disorder)
• \Infectious disease\Bacterial infectious disease\Disease caused by Gram-negative bacteria\Disease caused by Gram-negative cocci\Disease caused by Neisseria\Recurrent Neisseria infection due to factor D deficiency (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3757116010	Recurrent Neisseria infection due to factor D deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3757117018	Recurrent Neisseria infection due to factor D deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3757118011	A rare genetic primary immunodeficiency disorder with characteristics of increased susceptibility to Neisseria bacterial infections resulting from complement factor D deficiency. Typical manifestations are recurrent respiratory infections, recurrent meningitis and/or septicaemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations. Caused by homozygous mutation in the CFD gene on chromosome 19p13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757119015	A rare genetic primary immunodeficiency disorder with characteristics of increased susceptibility to Neisseria bacterial infections resulting from complement factor D deficiency. Typical manifestations are recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations. Caused by homozygous mutation in the CFD gene on chromosome 19p13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757116010	Recurrent Neisseria infection due to factor D deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3757117018	Recurrent Neisseria infection due to factor D deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3757118011	A rare genetic primary immunodeficiency disorder with characteristics of increased susceptibility to Neisseria bacterial infections resulting from complement factor D deficiency. Typical manifestations are recurrent respiratory infections, recurrent meningitis and/or septicaemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations. Caused by homozygous mutation in the CFD gene on chromosome 19p13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757119015	A rare genetic primary immunodeficiency disorder with characteristics of increased susceptibility to Neisseria bacterial infections resulting from complement factor D deficiency. Typical manifestations are recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations. Caused by homozygous mutation in the CFD gene on chromosome 19p13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3392891001000116	Neisseria-Infektionen, rekurrente, durch Faktor D-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5591121000241119	infection récurrente à Neisseria due à un déficit en facteur D	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5591121000241119	infection récurrente à Neisseria due à un déficit en facteur D	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3392891001000116	Neisseria-Infektionen, rekurrente, durch Faktor D-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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