autosomaal dominante hereditaire aandoening	congenitale nefropathie	familiaire renale glucosurie	hereditaire aandoening van visueel systeem	hereditaire nefropathie	hereditaire ontwikkelingsstoornis	juveniel cataract	metabole nierziekte	microcornea	stoornis van koolhydraatabsorptie
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syndroom van juveniel cataract, microcornea en renale glucosurie (aandoening)
	syndroom van juveniel cataract, microcornea en renale glucosurie
	Juvenile cataract, microcornea, renal glucosuria syndrome
	An extremely rare autosomal dominant association reported in a single Swiss family with clinical characteristics of juvenile cataract associated with bilateral microcornea and renal glucosuria without other renal tubular defects.

Id	722457005
Status	Primitive

Finding site	structuur van nier
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	afwijkend klein
Finding site	structuur van cornea
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	troebeling
Finding site	structuur van lens cristallina
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	H26.0
Term	Infantiel, juveniel en preseniel cataract

Target	Q13.4
Term	Overige congenitale misvormingen van cornea

Target	E74.8
Term	Overige gespecificeerde stofwisselingsstoornissen van koolhydraten

SNOMED CT to Orphanet simple map

247794

SNOMED CT to ICD-10 extended map

Target	H26.0
Rule	TRUE
Advice	ALWAYS H26.0
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q13.4
Rule	TRUE
Advice	ALWAYS Q13.4
Correlation	SNOMED CT source code to target map code correlation not specified

Target	E74.8
Rule	TRUE
Advice	ALWAYS E74.8
Correlation	SNOMED CT source code to target map code correlation not specified