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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

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 (disorder) 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
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Is a False Complement regulatory factor defect Inferred relationship Some
A rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis 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
Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to Neisseria bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations. 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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