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immunodeficiëntie door deficiëntie van 'mannan binding lectin serine peptidase 2' (aandoening)
immunodeficiëntie door deficiëntie van 'mannan binding lectin serine peptidase 2'
immunodeficiëntie door MASP2-deficiëntie
Immunodeficiency due to MASP-2 deficiency
Immunodeficiency due to mannan binding lectin serine peptidase 2 deficiency
Immunodeficiency due to MASP-2 (mannan binding lectin serine peptidase 2) deficiency
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.
Id771078002
StatusPrimitive
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD84.1
TermStoornissen in complementsysteem
SNOMED CT to Orphanet simple map331187
SNOMED CT to ICD-10 extended map
TargetD84.1
RuleTRUE
AdviceALWAYS D84.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified