syndroom van gewrichtscontracturen, pterygium colli, micrognathie en hypoplastische tepels (aandoening) | | syndroom van gewrichtscontracturen, pterygium colli, micrognathie en hypoplastische tepels | | syndroom van Dinno syndroom van gewrichtscontracturen, 'webbed neck', micrognathie en tepelhypoplasie Dinno-syndroom
| | Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome | | Dinno syndrome Contractures, webbed neck, micrognathia, hypoplastic nipples syndrome
| | An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of micrognathia, short webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated. |
| Id | 773626008 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q87.8 | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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SNOMED CT to Orphanet simple map | 314002 |
SNOMED CT to ICD-10 extended map | 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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