Autosomal recessive hereditary disorder	Cerebellar ataxia	Developmental hereditary disorder	Dysgenesis of the cerebellum	Hereditary ataxia	Hereditary disorder of the visual system	Intellectual disability	Multiple system malformation syndrome	Oculomotor apraxia
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Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder)
	Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
	Poretti Boltshauser syndrome
	A rare neuro-ophthalmological disease with characteristics of nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. Caused by homozygous or compound heterozygous mutation in the LAMA1 gene on chromosome 18p11.
	syndroom van cerebellaire ataxie, verstandelijke beperking, oculomotorische apraxie en cerebellaire cyste
	syndroom van Poretti-Boltshauser syndroom van cerebellaire ataxie, mentale retardatie, oculomotorische apraxie en cerebellaire cyste syndroom van cerebellaire ataxie, verstandelijke handicap, oculomotorische apraxie en cerebellaire cyste

Id	763344007
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Cerebellar structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Finding site	Structure of visual system
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	G11.1
Rule	TRUE
Advice	ALWAYS G11.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified