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gecombineerde immunodeficiƫntie met granulomatose (aandoening)
gecombineerde immunodeficiƫntie met granulomatose
Combined immunodeficiency with granulomatosis
Combined immunodeficiency due to RAG 1/2 deficiency
Combined immunodeficiency due to RAG 1/2 (recombination activating gene 1/2) deficiency
A rare genetic non-severe combined immunodeficiency disease with characteristics of immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs and various autoimmune manifestations (including cytopenia, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed.
Id783743009
StatusPrimitive
Pathological processafwijkend immuunproces
Associated morphologygranulomatose
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
SNOMED CT to Orphanet simple map157949
SNOMED CT to ICD-10 extended map
TargetD81.1
RuleTRUE
AdviceALWAYS D81.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified