234607008: Factor D 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\Alternative pathway deficiency\Factor D deficiency

\Disorder of body system\Disorder of immune structure (disorder)\Alternative pathway deficiency\Factor D 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

351522017 Factor D deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

622950016 Factor D deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3529431000005117 faktor D-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 D deficiency	Is a	Alternative pathway deficiency	true	Inferred relationship	Some
Factor D deficiency	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	1
Factor D deficiency	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Factor D 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 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.	Due to	True	Factor D deficiency	Inferred relationship	Some	4

This concept is not in any reference sets