| passagère infantiele hypertriglyceridemie en hepatosteatose (aandoening) | | passagère infantiele hypertriglyceridemie en hepatosteatose | | voorbijgaande infantiele hypertriglyceridemie en hepatosteatose
transiënte infantiele hypertriglyceridemie en hepatosteatose
| | Transient infantile hypertriglyceridemia and hepatosteatosis | | Transient infantile hypertriglyceridemia and fatty liver
| | A rare genetic hepatic disease characterized by massive hepatomegaly, moderate to severe transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis) manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age. Caused by homozygous or compound heterozygous mutation in the GPD1 gene on chromosome 12q13. |
| | Id | 773649005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | P74.8 | | Term | Overige gespecificeerde voorbijgaande stofwisselingsstoornissen van pasgeborene |
| Target | K76.0 | | Term | Vettige leverdegeneratie, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 300293 |
| SNOMED CT to ICD-10 extended map | | Target | K76.0 | | Rule | TRUE | | Advice | ALWAYS K76.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | E78.1 | | Rule | TRUE | | Advice | ALWAYS E78.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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