| fish-eye disease (aandoening) | | fish-eye disease | | Fish-eye disease | | Partial LCAT deficiency
Partial LCAT (lecithin-cholesterol acyltransferase) deficiency
FED - Fish-eye disease
| | Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. |
| | Id | 238092004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E78.6 | | Term | Lipoproteïnedeficiëntie |
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| SNOMED CT to Orphanet simple map | 79292 |
| SNOMED CT to ICD-10 extended map | | Target | E78.6 | | Rule | TRUE | | Advice | ALWAYS E78.6 | 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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