familiaire hypercholanemie (aandoening) | | familiaire hypercholanemie | | familiale hypercholanemie
| | Familial hypercholanemia | | Hereditary hypercholanemia
| | Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent. |
| Id | 723360007 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
SNOMED CT to Orphanet simple map | 238475 |
SNOMED CT to ICD-10 extended map | Target | E88.8 | Rule | TRUE | Advice | ALWAYS E88.8 | 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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