| syndroom van craniosynostose, microretrognathie en ernstige verstandelijke beperking (aandoening) | | syndroom van craniosynostose, microretrognathie en ernstige verstandelijke beperking | | syndroom van craniostenose, microretrognathie en ernstige verstandelijke handicap
syndroom van craniostenose, microretrognathie en ernstige mentale retardatie
| | Craniosynostosis, microretrognathia, severe intellectual disability syndrome | | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, moderate to severe intellectual disability, dysmorphic features including craniosynostosis, micro/retrognathia, cleft palate, brachydactyly and short stature. Seizures, skeletal anomalies (such as arthrogryposis, gracile bones and pathological fractures) and renal abnormalities have also been described. Cerebral MRI may show periventricular white matter changes and ventriculomegaly. |
| | Id | 1269224009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 565858 |
| 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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