| syndroom van scleroserende botdysplasie, ichtyose en prematuur ovariumfalen (aandoening) | | syndroom van scleroserende botdysplasie, ichtyose en prematuur ovariumfalen | | Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome | | Osteosclerosis, ichthyosis, premature ovarian failure syndrome
| | A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. |
| | Id | 722114007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q77.4 | | Term | Achondroplasie |
| Target | Q80.0 | | Term | Ichthyosis vulgaris |
| Target | E28.3 | | Term | Primaire ovariuminsufficiëntie |
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| SNOMED CT to Orphanet simple map | 75325 |
| SNOMED CT to ICD-10 extended map | | Target | M85.89 | | Rule | TRUE | | Advice | ALWAYS M85.89 | 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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