Autosomal recessive hereditary disorder
Cerebellar ataxia
Congenital anomaly of retina
Congenital anomaly of skeletal bone
Developmental hereditary disorder
Hereditary ataxia
Hereditary disorder of musculoskeletal system
Hereditary disorder of the visual system
Hereditary nephropathy
Lesion of bone
Renal dysplasia
Retinal pigment epithelial dystrophy
Skeletal dysplasia
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Saldino-Mainzer dysplasia (disorder)
Saldino-Mainzer dysplasia
Conorenal syndrome
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, skeletal dysplasia syndrome
Id254092004
StatusPrimitive
Associated morphologyDysplasia
Finding siteKidney structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteCerebellar structure
OccurrenceCongenital
Associated morphologyDystrophy
Finding siteStructure of retinal pigment epithelium
OccurrenceCongenital
Pathological processPathological developmental process
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetQ87.5
RuleTRUE
AdviceALWAYS Q87.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified