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

SNOMED CT Concept\Clinical finding\...

\Finding related to coordination / incoordination\Ataxia\Hereditary ataxia\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

\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\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\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\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\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\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus

\Disorder of head\Disorder of eye region\Disorder of eye\...

\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus

\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\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\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\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\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus

\Muscle finding\Myopathy\...

\Degenerative disorder of muscle\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\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus

\Degenerative disorder of musculoskeletal system\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\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\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\Muscle atrophy\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscle atrophy\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Disease\Disorder of body system\Disorder of endocrine system\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\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\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\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Muscle atrophy\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Muscle atrophy\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Disease\Myopathy\Degenerative disorder of muscle\Muscle atrophy\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Disease\Myopathy\Disorder of skeletal muscle\Muscle atrophy\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
\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\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, Primitive. 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 Active Case insensitive SNOMED CT core

4687927014 Furukawa Takagi Nakao syndrome en Synonym Active Case sensitive SNOMED CT core

626365010 Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus (disorder) en Fully specified name Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Is a	Diabetes mellitus associated with genetic syndrome	true	Inferred relationship	Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Is a	Hereditary ataxia	true	Inferred relationship	Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Is a	Degeneration of retina	true	Inferred relationship	Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Associated with	Genetic disease	true	Inferred relationship	Some	5
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Finding site	Structure of endocrine system	true	Inferred relationship	Some	3
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Finding site	Structure of nervous system	true	Inferred relationship	Some	4
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Finding site	Retinal structure	true	Inferred relationship	Some	2
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	2
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Is a	Multisystem disorder	false	Inferred relationship	Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Associated morphology	Atrophy	true	Inferred relationship	Some	1
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Finding site	Endocrine pancreatic structure	false	Inferred relationship	Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Associated morphology	Atrophy	false	Inferred relationship	Some	1
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Is a	Muscle atrophy	true	Inferred relationship	Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Is a	Disorder of endocrine pancreas	false	Inferred relationship	Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Is a	Multisystem disorder M-N	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
356098018	Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	en	Synonym	Active	Case insensitive	SNOMED CT core
4687927014	Furukawa Takagi Nakao syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
626365010	Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core