syndroom van cryptomicrotie en brachydactylie (aandoening) | | syndroom van cryptomicrotie en brachydactylie | | Cryptomicrotia brachydactyly syndrome | | Cryptomicrotia, brachydactyly, excess fingertip arch syndrome Tonoki Ohura Niikawa syndrome
| | This syndrome describes a combination of malformations that include bilateral cryptomicrotia (recessed, hidden and small or absent ears), brachytelomesophalangy with short middle and distal phalanges of digits two through five, hypoplastic toenails and excess fingertip arch patterns. The syndrome has been reported in one family (mother and son). There have been no further descriptions in the literature since 1988. |
| Id | 725096002 | Status | Primitive |
DHD Diagnosethesaurus-referentieset |
referentieset met complexe 'mapping' naar ICD-10 | Target | Q87.8 | Rule | TRUE | Advice | ALWAYS Q87.8 | 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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