Autosomal recessive hereditary disorder
Familial disease
Synthetic defect of bile acids
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Familial hypercholanemia (disorder)
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.
familiaire hypercholanemie
familiale hypercholanemie
Id723360007
StatusPrimitive
Finding siteLiver structure
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetK76.8
RuleTRUE
AdviceALWAYS K76.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified