| syndroom van vertraagde groei, verstandelijke beperking en hepatopathie (aandoening) | | syndroom van vertraagde groei, verstandelijke beperking en hepatopathie | | syndroom van groeiachterstand, verstandelijke handicap en leverziekte
syndroom van groeivertraging, mentale retardatie en aandoening van lever
| | Growth delay, intellectual disability, hepatopathy syndrome | | A rare genetic syndromic intellectual disability disease with characteristics of 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 | 1186713004 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 541423 |
| SNOMED CT to ICD-10 extended map | | Target | F78.8 | | Rule | TRUE | | Advice | ALWAYS F78.8 | 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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