237984008: Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)

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

\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\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Head finding (finding)\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\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Head finding (finding)\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\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Head finding (finding)\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\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Head finding (finding)\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\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Head finding (finding)\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\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)

\Finding related to coordination / incoordination (finding)\Ataxia\Hereditary ataxia (disorder)\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)

\General finding of soft tissue\Finding of power of skeletal muscle\Muscle weakness\Progressive weakness of muscle\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\General finding of soft tissue\Finding of power of skeletal muscle\Muscle weakness\Neurological muscle weakness\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)

\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (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\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (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\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (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\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (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\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)

\Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Progressive weakness of muscle\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Neurological muscle weakness\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)

\Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Progressive weakness of muscle\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Neurological muscle weakness\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myoneural disorder\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (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\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (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\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Genetic disease\Hereditary disease\Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (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\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (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\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Myoneural disorder\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myoneural disorder\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (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\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (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\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Metabolic disease\Chronic metabolic disorder\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Chronic disease\Chronic metabolic disorder\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)

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

356686010 Neurogenic muscle weakness, ataxia and retinitis pigmentosa en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626798015 Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5283905019 NARP (neurogenic muscle weakness, ataxia, retinitis pigmentosa) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5283906018 NARP syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5283907010 A clinically heterogeneous progressive condition with characteristics of a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. NARP syndrome is a maternally inherited syndrome and women can transmit to all their offspring. Clinical severity usually depends on the mutation load. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Is a	Disorder of pyruvate metabolism and mitochondrial respiratory chain	true	Inferred relationship	Some
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Is a	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	true	Inferred relationship	Some
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Some
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Is a	Chronic nervous system disorder (disorder)	true	Inferred relationship	Some
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Is a	Chronic metabolic disorder	true	Inferred relationship	Some
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Is a	Myoneural disorder	true	Inferred relationship	Some
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Is a	Retinitis pigmentosa	true	Inferred relationship	Some
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Is a	Neurological muscle weakness	true	Inferred relationship	Some
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Some
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	4
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	5
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Finding site	Retinal structure	true	Inferred relationship	Some	2
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Is a	Progressive weakness of muscle	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
356686010	Neurogenic muscle weakness, ataxia and retinitis pigmentosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626798015	Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5283905019	NARP (neurogenic muscle weakness, ataxia, retinitis pigmentosa) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5283906018	NARP syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5283907010	A clinically heterogeneous progressive condition with characteristics of a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. NARP syndrome is a maternally inherited syndrome and women can transmit to all their offspring. Clinical severity usually depends on the mutation load.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core