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

SNOMED CT Concept\Clinical finding (finding)\...

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (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 (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (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 (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (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 (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disorder of head (disorder)\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 (disorder)

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)

\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (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 (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (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 (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\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 (disorder)

\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (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 (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\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 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (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 (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\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 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (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 (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal dominant retinitis pigmentosa\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of head (disorder)\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 (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\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 (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\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 (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\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 (disorder)
\Disease\Developmental disorder\Congenital malformation\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 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3330722014 Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

948421000172112 syndrome de nanisme ostéochondrodysplasique-surdité-rétinopathie pigmentaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

927061000172113 osteochondrodysplatisch nanisme, doofheid, retinitis pigmentosa nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

964041000172113 osteochondrodysplatische dwerggroei, doofheid, retinitis pigmentosa nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Is a	Autosomal dominant retinitis pigmentosa	true	Inferred relationship	Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Is a	Short stature disorder	true	Inferred relationship	Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Is a	Osteochondrodysplasia	false	Inferred relationship	Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	3
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	4
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Interprets	Functional observable	false	Inferred relationship	Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Some	7
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Finding site	Retinal structure	false	Inferred relationship	Some	7
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	8
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	8
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	8
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Is a	Congenital anomaly of retina	true	Inferred relationship	Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Finding site	Retinal structure	true	Inferred relationship	Some	2
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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Id	Description	Lang	Type	Status	Case?	Module
3330721019	Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330722014	Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
948421000172112	syndrome de nanisme ostéochondrodysplasique-surdité-rétinopathie pigmentaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
927061000172113	osteochondrodysplatisch nanisme, doofheid, retinitis pigmentosa	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
964041000172113	osteochondrodysplatische dwerggroei, doofheid, retinitis pigmentosa	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)