| syndroom van brachydactylie, elleboogdysplasie en polsdysplasie (aandoening) | | syndroom van brachydactylie, elleboogdysplasie en polsdysplasie | | syndroom van brachydactylie en gewrichtsdysplasie
syndroom van Liebenberg
Liebenberg-syndroom
| | Liebenberg syndrome | | Brachydactyly with joint dysplasia
Brachydactyly elbow wrist dysplasia
| | Syndrome with abnormal development of the arms resulting in characteristic arm malformations that can vary in severity. Bones in the elbows are abnormally shaped which affects mobility of the joints. Wrist bones are fused forming structures that resemble those in the ankles and heels and causing permanent radial deviation. The metacarpals are longer than normal along with brachydactyly. Life expectancy is normal. The syndrome is caused by genetic changes near the PITX1 gene. Inherited in an autosomal dominant pattern. |
| | Id | 764437006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q71.8 | | Term | Overige gespecificeerde onderontwikkeling van bovenste extremiteit(en) |
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| SNOMED CT to Orphanet simple map | 1275 |
| SNOMED CT to ICD-10 extended map | | Target | Q71.8 | | Rule | TRUE | | Advice | ALWAYS Q71.8 | 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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