Brachydactyly elbow wrist dysplasia (disorder) | | 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. | | syndroom van brachydactylie, elleboogdysplasie en polsdysplasie | | syndroom van brachydactylie en gewrichtsdysplasie syndroom van Liebenberg Liebenberg-syndroom
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| Id | 764437006 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | 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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