719205008: Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Central nervous system finding\Disorder of the central nervous system (disorder)\...
• \Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disorder of visual pathways\Spondylometaphyseal dysplasia with cone-rod dystrophy 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\Spondylometaphyseal dysplasia with cone-rod dystrophy 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\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy 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\Spondylometaphyseal dysplasia with cone-rod dystrophy 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\Spondylometaphyseal dysplasia with cone-rod dystrophy 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\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (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\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy 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\Spondylometaphyseal dysplasia with cone-rod dystrophy 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\Spondylometaphyseal dysplasia with cone-rod dystrophy 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\Spondylometaphyseal dysplasia with cone-rod dystrophy 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\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of visual pathways\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy 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\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy 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\Spondylometaphyseal dysplasia with cone-rod dystrophy 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\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy 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\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia with cone-rod dystrophy 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\Spondylometaphyseal dysplasia with cone-rod dystrophy 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\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia with cone-rod dystrophy 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
3315412014	Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315413016	Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315414010	This syndrome has manifestations of the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
902021000172112	syndrome de dysplasie spondylo-métaphysaire-dystrophie des cônes et des bâtonnets	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
922781000172118	SMD-CRD - spondylometaphyseal dysplasia, cone-rod dystrophy syndrome	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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