| syndroom van groeiretardatie, verstandelijke beperking en hepatopathie (aandoening) | | syndroom van groeiretardatie, verstandelijke beperking en hepatopathie | | syndroom van groeiachterstand, mentale retardatie en aandoening van lever
syndroom van groeiretardatie, verstandelijke handicap en hepatopathie
GRIDDH
| | Growth retardation, intellectual developmental disorder and hepatopathy syndrome | | Growth retardation, intellectual developmental disorder, hypotonia and hepatopathy
GRIDHH
| | A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss. |
| | Id | 154361000146108 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | F79.9 | | Term | Niet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen |
| Target | K76.9 | | Term | Leverziekte, niet gespecificeerd |
| Target | R62.8 | | Term | Overige gespecificeerde achterstand in normale fysiologische ontwikkeling |
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