| syndroom van craniofaciale dysmorfie, coloboom van oog en agenesie van corpus callosum (aandoening) | | syndroom van craniofaciale dysmorfie, coloboom van oog en agenesie van corpus callosum | | syndroom van Temtamy-Shalash
| | Temtamy syndrome | | Temtamy Shalash syndrome
Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome
| | A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. |
| | Id | 719947004 | | 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 | 1777 |
| 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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