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constitutionele 'mismatch repair'-deficiƫntiesyndroom (aandoening)
constitutionele 'mismatch repair'-deficiƫntiesyndroom
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 Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetZ80.9
TermFamilie-anamnese met maligne neoplasma, niet gespecificeerd
SNOMED CT to Orphanet simple map252202
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
TargetQ99.8
RuleTRUE
AdviceALWAYS Q99.8
CorrelationSNOMED CT source code to target map code correlation not specified
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