| syndroom van verstandelijke beperking, obesitas, malformatie van hersenen en faciale dysmorfie (aandoening) | | syndroom van verstandelijke beperking, obesitas, malformatie van hersenen en faciale dysmorfie | | autosomaal recessieve mentale retardatie door TRAPPC9-deficiëntie
syndroom van verstandelijke handicap, obesitas, malformatie van hersenen en faciale dysmorfie
syndroom van mentale retardatie, obesitas, malformatie van hersenen en faciale dysmorfie
| | Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | | Autosomal recessive intellectual disability due to TRAPPC9 (trafficking protein particle complex 9) deficiency
| | A rare syndromic intellectual disability with primary characteristics of moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features. |
| | Id | 763350002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q04.8 | | Term | Overige gespecificeerde congenitale misvormingen van hersenen |
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| SNOMED CT to Orphanet simple map | 352530 |
| SNOMED CT to ICD-10 extended map | | Target | Q04.8 | | Rule | TRUE | | Advice | ALWAYS Q04.8 | 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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