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771443008: Complement component 3 deficiency (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3706218019 Complement component 3 deficiency en Synonym Active Case insensitive SNOMED CT core
3706219010 Complement component 3 deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3706220016 C3 deficiency en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


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 Abnormal immune process 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 true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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