237611007: Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Retina finding (finding)\Retinal disorder\Degeneration of retina (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Finding of coordination\Ataxia\Hereditary ataxia (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Muscle atrophy\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Eye / vision finding\Globe finding (finding)\Retina finding (finding)\Retinal disorder\Degeneration of retina (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Muscle finding (finding)\Disorder of muscle\...
• \Degenerative disorder of muscle (disorder)\Muscle atrophy\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disorder of skeletal muscle\Muscle atrophy\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...
• \Hereditary disorder of musculoskeletal system\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Degenerative disorder of musculoskeletal system (disorder)\Muscle atrophy\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disorder of skeletal muscle\Muscle atrophy\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system (disorder)\Muscle atrophy\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Degenerative disorder\Degenerative disorder of muscle (disorder)\Muscle atrophy\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Diabetes mellitus\Secondary diabetes mellitus\Diabetes mellitus associated with genetic syndrome\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Degenerative disorder of musculoskeletal system (disorder)\Muscle atrophy\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Muscle atrophy\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Disorder of muscle\Degenerative disorder of muscle (disorder)\Muscle atrophy\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Muscle atrophy\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose metabolism\Diabetes mellitus\Secondary diabetes mellitus\Diabetes mellitus associated with genetic syndrome\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscle atrophy\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
356098018	Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626365010	Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4687927014	Furukawa Takagi Nakao syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4687926017	A rare hereditary ataxia with characteristics of neurogenic muscular atrophy associated with signs of cerebellar ataxia, degeneration of the retina and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356098018	Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356098018	Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626365010	Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626365010	Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4687927014	Furukawa Takagi Nakao syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4687926017	A rare hereditary ataxia with characteristics of neurogenic muscular atrophy associated with signs of cerebellar ataxia, degeneration of the retina and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
545491000274115	Furukawa-Takagi-Nakao-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3432681001000117	Muskelatrophie-Ataxie-Retinitis pigmentosa-Diabetes mellitus-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
110801000077115	atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
110801000077115	atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
545491000274115	Furukawa-Takagi-Nakao-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3432681001000117	Muskelatrophie-Ataxie-Retinitis pigmentosa-Diabetes mellitus-Syndrom	de	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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