Autosomal recessive retinitis pigmentosa
Developmental hereditary disorder
Hereditary disorder of nervous system
Intellectual disability
Spastic tetraplegia
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Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
Spastic quadriplegia, retinitis pigmentosa, intellectual disability syndrome
This syndrome has characteristics of nonprogressive spastic paraplegia, retinitis pigmentosa and intellectual deficit. It has been described in two brothers born to consanguineous parents.
syndroom van spastische tetraplegie, retinitis pigmentosa en verstandelijke beperking
syndroom van spastische tetraplegie, retinitis pigmentosa en verstandelijke handicap
syndroom van spastische tetraplegie, retinitis pigmentosa en mentale retardatie
Id723621000
StatusPrimitive
Finding siteStructure of central nervous system
Finding siteLimb structure
Associated morphologyDystrophy
Finding siteRetinal structure
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG82.4
RuleTRUE
AdviceALWAYS G82.4
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5
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