| metafysaire dysplasie Braun-Tinschert-type (aandoening) | | metafysaire dysplasie Braun-Tinschert-type | | Metaphyseal dysplasia Braun Tinschert type | | Characterized by metaphyseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. It has been described in four German families originating from the same town in Bohemia and in a 7-year-old Japanese girl. Transmission is autosomal dominant. |
| | Id | 717221005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q78.5 | | Term | Metafysaire dysplasie |
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| SNOMED CT to Orphanet simple map | 85188 |
| SNOMED CT to ICD-10 extended map | | Target | Q78.5 | | Rule | TRUE | | Advice | ALWAYS Q78.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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