24743004: Complement deficiency disease (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

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

41464011 Complement deficiency disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

754414019 Complement deficiency disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1224034011 Defects in the complement system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1991541000005119 komplementmangelsygdom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Classical complement pathway abnormality	Is a	True	Complement deficiency disease	Inferred relationship	Some
Alternative pathway deficiency	Is a	True	Complement deficiency disease	Inferred relationship	Some
Terminal component deficiency	Is a	True	Complement deficiency disease	Inferred relationship	Some
Complement regulatory factor defect	Is a	True	Complement deficiency disease	Inferred relationship	Some
Complement receptor deficiency	Is a	True	Complement deficiency disease	Inferred relationship	Some
A rare genetic immunodeficiency due to a complement cascade protein anomaly with characteristics of low serum levels of MASP-2 and a variable susceptibility to bacterial infections (for example pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (for example inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic. There is evidence the disease is caused by homozygous mutation in the MASP2 gene on chromosome 1p36.	Is a	True	Complement deficiency disease	Inferred relationship	Some
A rare genetic primary immunodeficiency with characteristics of susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure. The disease is caused by homozygous or compound heterozygous mutation in the C3 gene on chromosome 19p13.	Is a	False	Complement deficiency disease	Inferred relationship	Some

This concept is not in any reference sets