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771443008: Complement component 3 deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3706218019 Complement component 3 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706219010 Complement component 3 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706220016 C3 deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3706221017 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4204951000052110 brist på komplementfaktor 3 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Complement component 3 deficiency Is a Complement deficiency disease false Inferred relationship Some
Complement component 3 deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Complement component 3 deficiency Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1
Complement component 3 deficiency Is a Hereditary disorder of immune system true Inferred relationship Some
Complement component 3 deficiency Is a Classical complement pathway abnormality true Inferred relationship Some
Complement component 3 deficiency Finding site Structure of immune system (body structure) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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