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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
Constitutional mismatch repair deficiency syndrome is 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 (e.g., café-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
TargetD80.8
RuleTRUE
AdviceALWAYS D80.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
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