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constitutionele 'mismatch repair'-deficiëntiesyndroom (aandoening)
constitutionele 'mismatch repair'-deficiëntiesyndroom
CMMR-D-syndroom
Constitutional mismatch repair deficiency syndrome
CMMR-D (constitutional mismatch repair deficiency) syndrome
A rare inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (for example cafe au lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development.
Id764946008
StatusPrimitive
Pathological processafwijkend immuunproces
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetD84.8
RuleTRUE
AdviceALWAYS D84.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetZ80.9
RuleTRUE
AdviceALWAYS Z80.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ99.9
RuleTRUE
AdviceALWAYS Q99.9
CorrelationSNOMED CT source code to target map code correlation not specified