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T-cel negatieve en B-cel positieve 'severe combined immunodeficiency' door deficiëntie van janus kinase-3 (aandoening)
T-cel negatieve en B-cel positieve 'severe combined immunodeficiency' door deficiëntie van janus kinase-3
SCID met JAK3 mutatie
SCID type JAK3
T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency
Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.
Id718107000
StatusPrimitive
Occurrencecongenitaal
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD81.2
Term'Severe combined immunodeficiency' [SCID] met lage of normale aantallen B-cellen
SNOMED CT to Orphanet simple map35078
SNOMED CT to ICD-10 extended map
TargetD81.2
RuleTRUE
AdviceALWAYS D81.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified