algehele ontwikkelingsachterstand	autosomaal recessieve hereditaire aandoening	chronische hepatitis	groeiretardatie	hereditaire aandoening van spijsverteringsstelsel	hereditaire ontwikkelingsstoornis
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syndroom van groeiretardatie, lichte ontwikkelingsachterstand en chronische hepatitis (aandoening)
	syndroom van groeiretardatie, lichte ontwikkelingsachterstand en chronische hepatitis
	Growth retardation, mild developmental delay, chronic hepatitis syndrome
	A rare genetic parenchymatous liver disease with characteristics of pre and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anemia, and B-precursor acute lymphoblastic leukemia.

Id	774204006
Status	Primitive

Associated morphology	chronische inflammatoire morfologie
Finding site	structuur van lever

Clinical course

Associated morphology	groeivertraging
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E88.8
Term	Overige gespecificeerde stofwisselingsstoornissen

SNOMED CT to Orphanet simple map

391366

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