| familiaire hypercholanemie (aandoening) | | familiaire hypercholanemie | | familiale hypercholanemie
| | Familial hypercholanemia | | Hereditary hypercholanemia
| | A very rare genetic disorder with clinical characteristics of elevated serum bile acid concentrations, itching and fat malabsorption reported in patients of Old Order Amish descent. Can be caused by mutation in the TJP2 gene on chromosome 9q21, the BAAT gene on chromosome 9q31, or the EPHX1 gene on chromosome 1q42. |
| | Id | 723360007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 238475 |
| SNOMED CT to ICD-10 extended map | | Target | K76.8 | | Rule | TRUE | | Advice | ALWAYS K76.8 | 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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