| syndroom van osteosclerose, ontwikkelingsachterstand en craniosynostose (aandoening) | | syndroom van osteosclerose, ontwikkelingsachterstand en craniosynostose | | Osteosclerosis, developmental delay, craniosynostosis syndrome | | Syndrome with characteristics of osteosclerosis, developmental delay and craniosynostosis. It has been reported in 13 patients from a four-generation family. Osteosclerosis was constant and most pronounced in the cranial base and calvarium. Craniosynostosis was reported in four patients and a mild developmental delay in three patients. Dysmorphic features were constant and included macrocephaly, brachycephaly, wide and high forehead, hypertelorism, prominent cheekbones and prominent jaw. A missense mutation A214T in the low-density lipoprotein receptor related protein 5 gene. |
| | Id | 722117000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q75.8 | | Term | Overige gespecificeerde congenitale misvormingen van schedel- en aangezichtsbeenderen |
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| SNOMED CT to Orphanet simple map | 178377 |
| SNOMED CT to ICD-10 extended map | | Target | Q75.8 | | Rule | TRUE | | Advice | ALWAYS Q75.8 | 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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