autosomaal dominante hereditaire aandoening	congenitale hepatomegalie	congenitale hyperplasie van skeletspierstelsel	hereditaire aandoening van bewegingsapparaat	hereditaire aandoening van spijsverteringsstelsel	hereditaire ontwikkelingsstoornis	malformatiesyndroom met betrokkenheid van meerdere systemen
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syndroom van musculaire hypertrofie, hepatomegalie en polyhydramnion (aandoening)
	syndroom van musculaire hypertrofie, hepatomegalie en polyhydramnion
	Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome
	A rare genetic disease with characteristics of symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development.

Id	773584001
Status	Primitive

Associated morphology	hyperplasie
Finding site	structuur van skeletspierstelsel
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	vergroting
Finding site	gehele lever
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.8
Term	Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd

SNOMED CT to Orphanet simple map

324416

SNOMED CT to ICD-10 extended map

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified