gecombineerde brachydactylie type B en E (aandoening) | | syndroom van Ballard | | Pitt-Williams-brachydactylie gecombineerde brachydactylie type B en E
| | Ballard syndrome | | Pitt Williams brachydactyly Brachydactyly types B and E combined
| | Ballard syndrome has characteristics of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. The syndrome has been described in 12 members from four generations of one family. Transmission appears to be autosomal dominant. |
| Id | 722298001 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
SNOMED CT to ICD-10 extended map | Target | Q73.8 | Rule | TRUE | Advice | ALWAYS Q73.8 | Correlation | SNOMED CT source code to target map code correlation not specified |
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