| otopalatodigitaal syndroom-spectrumstoornis (aandoening) | | otopalatodigitaal syndroom-spectrumstoornis | | OPD-spectrumstoornis
| | Otopalatodigital syndrome spectrum disorder | | OPD (otopalatodigital) spectrum disorder
| | A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. |
| | Id | 784010006 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | Q87.5 | | Rule | TRUE | | Advice | ALWAYS Q87.5 | 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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