| familiaire aandoening door depositie van calciumpyrofosfaatdihydraatkristallen (aandoening) | | familiaire aandoening door depositie van calciumpyrofosfaatdihydraatkristallen | | familiaire chondrocalcinose
familiaire aandoening door afzetting van kristallen van calciumpyrofosfaatdihydraat
familiaire calciumpyrofosfaatartropathie
| | Familial calcium pyrophosphate dihydrate crystal deposition disease | | Familial calcium pyrophosphate deposition disease
Familial CPPD (calcium pyrophosphate deposition disease)
| | A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage. It often associates with acute synovitis and osteoarthritis. The disease manifests in early adulthood (20-40 years old) and has a variable clinical phenotype. Mutations in the ANKH gene (human homologue of progressive ankylosis; 5p15.2), encoding a protein involved in cellular inorganic pyrophosphate transport, were identified in some cases of familial CPPD. Other familial cases have been linked to mutation in the Tumor Necrosis Factor Receptor Super Family member 11B (TNFRSF11B) gene coding for osteoprotegerin (OPG) Other causative genes are yet to be determined. Has an autosomal dominant mode of inheritance with variable penetrance. |
| | Id | 1162808000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | M11.19 | | Term | Familiale chondrocalcinose van lokalisatie niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 1416 |
| SNOMED CT to ICD-10 extended map | | Target | M11.19 | | Rule | TRUE | | Advice | ALWAYS M11.19 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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