234621005: Factor I deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Disorder of complement\Complement deficiency disease\Complement regulatory factor defect\Factor I deficiency

\Disorder of body system\Disorder of immune structure (disorder)\Complement regulatory factor defect\Factor I deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

351548013 Factor I deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

351549017 Complement factor 3i deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

351550017 Complement component 3 inactivator deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

622966019 Factor I deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3529631000005119 faktor I-mangel da Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Factor I deficiency	Is a	Complement regulatory factor defect	true	Inferred relationship	Some
Factor I deficiency	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	1
Factor I deficiency	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Factor I deficiency	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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.	Is a	True	Factor I deficiency	Inferred relationship	Some

This concept is not in any reference sets