Congenital anterior polar cataract	Dandy-Walker syndrome	Developmental hereditary disorder	Distal spinal muscular atrophy	Hereditary disorder of the visual system	Multiple system malformation syndrome
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Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)
	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.
	syndroom van spinale spieratrofie, Dandy-Walker-malformatie en cataract

Id	723612001
Status	Primitive

Associated morphology	Cystic dilatation
Finding site	Fourth ventricle structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Cystic dilatation
Finding site	Infratentorial brain structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Opacity
Finding site	Structure of anterior pole of lens
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Congenital malrotation
Finding site	Cerebellar vermis structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Hypoplasia
Finding site	Cerebellar vermis structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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