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

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

Status: current, Defined. 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	Active	Initial character case insensitive	SNOMED CT core
3757117018	Recurrent Neisseria infection due to factor D deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Disease caused by microorganism or bacterial toxin reference set

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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