783621008: Immunodeficiency with factor I anomaly (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of immune system\Immunodeficiency with factor I anomaly
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Immunodeficiency with factor I anomaly
• \Disorder of immune function\Hereditary disorder of immune system\Immunodeficiency with factor I anomaly
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Disorder of complement\Complement deficiency disease\Complement regulatory factor defect\Factor I deficiency\Immunodeficiency with factor I anomaly
• \Disorder of body system\Disorder of immune structure\Complement regulatory factor defect\Factor I deficiency\Immunodeficiency with factor I anomaly
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Immunodeficiency with factor I anomaly

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3759538011	Complete factor I deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3759539015	Immunodeficiency with factor I anomaly (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3759540018	Immunodeficiency with factor I anomaly	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3759541019	A rare genetic primary immunodeficiency disease with characteristics of increased susceptibility to recurrent usually severe infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumonia), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (for example systemic lupus erythematosus, glomerulonephritis) and atypical haemolytic uraemic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H. Caused by homozygous or compound heterozygous mutation in the gene encoding complement factor I on chromosome 4q25.	en	Definition	Active	Case sensitive	SNOMED CT core
3759542014	A rare genetic primary immunodeficiency disease with characteristics of increased susceptibility to recurrent usually severe infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumonia), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (for example systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H. Caused by homozygous or compound heterozygous mutation in the gene encoding complement factor I on chromosome 4q25.	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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