Autosomal recessive hereditary spastic paraplegia
Chronic mental disorder
Complicated hereditary spastic paraplegia
Developmental hereditary disorder
Glaucoma
Hereditary disorder of the visual system
Intellectual disability
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Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder)
Spastic paraplegia, glaucoma, intellectual disability syndrome
Syndrome with characteristics of progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.
syndroom van spastische paraplegie, glaucoom en verstandelijke beperking
syndroom van spastische paraplegie, glaucoom en verstandelijke handicap
syndroom van spastische paraplegie, glaucoom en mentale retardatie
Id733455003
StatusPrimitive
Associated morphologyDegenerative abnormality
Finding siteSpinal cord structure
Clinical courseProgressive
Finding siteEye structure
Finding siteLower limb structure
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ15.0
RuleTRUE
AdviceALWAYS Q15.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified