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234618008: Complement regulatory factor defect (disorder)


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
351534013 Complement regulatory factor defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
622963010 Complement regulatory factor defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3529581000005117 komplementreguleringsfaktordefekt da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


14 descendants. Search Descendants:

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group
Factor I deficiency Is a True Complement regulatory factor defect Inferred relationship Some
Factor H deficiency Is a True Complement regulatory factor defect Inferred relationship Some
Complement 4 binding protein deficiency Is a True Complement regulatory factor defect Inferred relationship Some
Decay accelerating factor deficiency Is a True Complement regulatory factor defect Inferred relationship Some
Homologous restriction factor deficiency Is a True Complement regulatory factor defect Inferred relationship Some
Complement 5a inhibitor deficiency Is a True Complement regulatory factor defect Inferred relationship Some
Anaphylotoxin inactivator deficiency Is a True Complement regulatory factor defect Inferred relationship Some
Familial C3B inhibitor deficiency syndrome Is a True Complement regulatory factor defect Inferred relationship Some
Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms including mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors. Is a False Complement regulatory factor defect Inferred relationship Some
A rare genetic haematologic and neurologic disease characterised by chronic Coombs-negative haemolysis. The disease is associated with early-onset relapsing immune-mediated inflammatory axonal or demyelinating sensory-motor peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation). Is a True Complement regulatory factor defect Inferred relationship Some
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. Is a True Complement regulatory factor defect Inferred relationship Some
Hereditary C1 esterase inhibitor deficiency - deficient factor Is a True Complement regulatory factor defect Inferred relationship Some
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Is a True Complement regulatory factor defect Inferred relationship Some
Atypical haemolytic uraemic syndrome with complement gene abnormality Due to True Complement regulatory factor defect Inferred relationship Some 12
Atypical haemolytic uraemic syndrome with anti-factor H antibodies Due to True Complement regulatory factor defect Inferred relationship Some 12

This concept is not in any reference sets

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