722108000: Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Finding of head region\Globe finding\Retina finding\Retinal disorder\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3330721019	Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3330722014	Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3330723016	This syndrome has characteristics of severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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