cataracta polaris anterior	Dandy-Walker-syndroom	distale spinale spieratrofie	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis	malformatiesyndroom met betrokkenheid van meerdere systemen
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syndroom van spinale spieratrofie, Dandy-Walker-malformatie en cataract (aandoening)
	syndroom van spinale spieratrofie, Dandy-Walker-malformatie en cataract
	Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
	Syndrome with characteristics of infantile symmetrical distal muscle weakness and atrophy of the lower limbs, bilateral anterior polar cataracts and Dandy-Walker malformation. It has been described in two brothers. No sensorineural or cognitive deficits were observed. The karyotypes of the two patients were normal. No mutations were found in the survival motor neurone (SMN), neuronal apoptosis inhibitory protein (NAIP) or androgen receptor genes.

Id	723612001
Status	Primitive

Associated morphology	cysteuze dilatatie
Finding site	structuur van ventriculus quartus cerebri
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	cysteuze dilatatie
Finding site	infratentoriële hersenstructuur
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	troebeling
Finding site	structuur van voorste lenspool
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	congenitale malrotatie
Finding site	structuur van vermis cerebelli
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	hypoplasie
Finding site	structuur van vermis cerebelli
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	G12.8
Term	Overige gespecificeerde vormen van spinale spieratrofie en verwante syndromen

Target	Q03.1
Term	Atresie van foramina van Magendie en Luschka

Target	Q12.0
Term	Congenitaal cataract

SNOMED CT to Orphanet simple map

73245

SNOMED CT to ICD-10 extended map

Target	G12.8
Rule	TRUE
Advice	ALWAYS G12.8
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q03.1
Rule	TRUE
Advice	ALWAYS Q03.1
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q12.0
Rule	TRUE
Advice	ALWAYS Q12.0
Correlation	SNOMED CT source code to target map code correlation not specified