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ernstige gecombineerde immunodeficiëntie met hypereosinofilie (aandoening)
ernstige gecombineerde immunodeficiëntie met hypereosinofilie
syndroom van Omenn
ernstige gecombineerde immuundeficiëntie met hypereosinofilie
SCID met hypereosinofilie
Omenn-syndroom
'severe combined immunodeficiency' met hypereosinofilie
Severe combined immunodeficiency with hypereosinophilia
Omenn syndrome
An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy and hepatosplenomegaly associated with severe combined immunodeficiency. The signs and symptoms can evolve over time and may not appear simultaneously. Some patients present with some but not all of these symptoms and may be described as having atypical Omenn syndrome. The syndrome is not caused by a defined genetic defect. The majority of cases reported to date have hypomorphic mutations in RAG1 and RAG2 genes (11p13). Transmission is autosomal recessive.
Id722067005
StatusPrimitive
Finding siteeosinofiele granulocyt
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD81.1
Term'Severe combined immunodeficiency' [SCID] met lage aantallen T- en B-cellen
TargetD72.1
TermEosinofilie
SNOMED CT to Orphanet simple map39041
SNOMED CT to ICD-10 extended map
TargetD81.1
RuleTRUE
AdviceALWAYS D81.1
CorrelationSNOMED CT source code to target map code correlation not specified
TargetD72.1
RuleTRUE
AdviceALWAYS D72.1
CorrelationSNOMED CT source code to target map code correlation not specified