45853006: hereditair areflexiesyndroom (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Roussy-Lévy syndrome

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Roussy-Lévy syndrome

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Roussy-Lévy syndrome
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Roussy-Lévy syndrome
\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Roussy-Lévy syndrome

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Roussy-Lévy syndrome	Is a	Spinocerebellar disease	false	Inferred relationship	Some
Roussy-Lévy syndrome	Is a	Muscle atrophy	false	Inferred relationship	Some
Roussy-Lévy syndrome	Finding site	Cerebellar structure	false	Inferred relationship	Some	1
Roussy-Lévy syndrome	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	2
Roussy-Lévy syndrome	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	1
Roussy-Lévy syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Roussy-Lévy syndrome	Associated morphology	Atrophy	false	Inferred relationship	Some	2
Roussy-Lévy syndrome	Is a	Lesion of brain	false	Inferred relationship	Some
Roussy-Lévy syndrome	Is a	Degenerative disease of the central nervous system	false	Inferred relationship	Some
Roussy-Lévy syndrome	Finding site	Spinal cord structure	false	Inferred relationship	Some	3
Roussy-Lévy syndrome	Is a	Disorder of soft tissue of body cavity	false	Inferred relationship	Some
Roussy-Lévy syndrome	Is a	Degenerative brain disorder	false	Inferred relationship	Some
Roussy-Lévy syndrome	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	1
Roussy-Lévy syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Roussy-Lévy syndrome	Associated morphology	Atrophy	false	Inferred relationship	Some	2
Roussy-Lévy syndrome	Finding site	Cerebellar structure	false	Inferred relationship	Some	1
Roussy-Lévy syndrome	Is a	Cerebellar degeneration	false	Inferred relationship	Some
Roussy-Lévy syndrome	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	1
Roussy-Lévy syndrome	Is a	Hereditary motor and sensory neuropathy (disorder)	true	Inferred relationship	Some
Roussy-Lévy syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
76470014	Roussy-Lévy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
76471013	Hereditary ataxia-muscular atrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
783138012	Roussy-Lévy syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2817087013	Roussy-Levy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
445351000146111	hereditair areflexiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
445361000146114	hereditair areflexiesyndroom (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
445371000146115	syndroom van Roussy-Lévy	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
583991000146118	roussy-lévysyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)