Autosomal recessive retinitis pigmentosa
Congenital anomaly of retina
Congenital anomaly of skeletal bone
Congenital nephropathy
Congenital neurological disorder
Developmental hereditary disorder
Hereditary disorder of endocrine system
Hereditary disorder of musculoskeletal system
Hereditary disorder of nervous system
Hereditary nephropathy
Hypopituitarism
Multiple system malformation syndrome
Nephronophthisis - medullary cystic disease
Skeletal dysplasia
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Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)
RHYNS syndrome
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome
RHYNS (retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia) syndrome
Syndrome with the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. So far, it has been described in four males. Autosomal recessive transmission is likely but an X-linked mode of inheritance cannot be excluded.
syndroom van retinitis pigmentosa, hypopituïtarisme, nefronoftise en skeletdysplasie
syndroom van retinitis pigmentosa, hypopituïtarisme, nefroftise en skeletdysplasie
RHYNS-syndroom
Id723999009
StatusPrimitive
Associated morphologyDystrophy
Finding siteRetinal structure
OccurrenceCongenital
Pathological processPathological developmental process
Finding sitePituitary structure
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteKidney structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyFibrocystic change
Finding siteStructure of medulla of kidney
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE23.0
RuleTRUE
AdviceALWAYS E23.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ61.5
RuleTRUE
AdviceALWAYS Q61.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ78.9
RuleTRUE
AdviceALWAYS Q78.9
CorrelationSNOMED CT source code to target map code correlation not specified