Autosomal recessive hereditary disorder
Chronic hepatitis
Developmental hereditary disorder
Digestive system hereditary disorder
Global developmental delay
Growth retardation
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Growth retardation, mild developmental delay, chronic hepatitis syndrome (disorder)
Growth retardation, mild developmental delay, chronic hepatitis syndrome
Growth retardation-mild developmental delay-chronic hepatitis syndrome is a rare, genetic, parenchymatous liver disease characterized by pre- and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anemia, and B-precursor acute lymphoblastic leukemia.
Id774204006
StatusPrimitive
Associated morphologyChronic inflammatory morphology
Finding siteLiver structure
Clinical courseChronic
Associated morphologyGrowth retardation
Pathological processPathological developmental process
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE88.8
TermOverige gespecificeerde stofwisselingsstoornissen
SNOMED CT to ICD-10 extended map
TargetK73.8
RuleTRUE
AdviceALWAYS K73.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified