771238004: Spinal atrophy, ophthalmoplegia, pyramidal syndrome (disorder)

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

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system (disorder)\Spinal atrophy, ophthalmoplegia, pyramidal syndrome

\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\Spinal atrophy, ophthalmoplegia, pyramidal syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Spinal atrophy, ophthalmoplegia, pyramidal syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Spinal atrophy, ophthalmoplegia, pyramidal syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Spinal atrophy, ophthalmoplegia, pyramidal syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Spinal atrophy, ophthalmoplegia, pyramidal syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Spinal atrophy, ophthalmoplegia, pyramidal syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\Spinal atrophy, ophthalmoplegia, pyramidal syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Spinal atrophy, ophthalmoplegia, pyramidal syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neurologic disorder of eye movements\Ophthalmoplegia\Spinal atrophy, ophthalmoplegia, pyramidal syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Lower motor neuron disease\Spinal muscular atrophy\Spinal atrophy, ophthalmoplegia, pyramidal syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Hereditary motor neuron disease\Spinal muscular atrophy\Spinal atrophy, ophthalmoplegia, pyramidal syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Ophthalmoplegia\Spinal atrophy, ophthalmoplegia, pyramidal syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3705199011 Hamano Tsukamoto syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3705202018 Spinal atrophy, ophthalmoplegia, pyramidal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3705203011 Spinal atrophy, ophthalmoplegia, pyramidal syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3705200014 A rare bulbospinal muscular atrophy characterised by generalised neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3705201013 A rare bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4201831000052114 syndrom med spinal muskelatrofi, oftalmoplegi och pyramidala tecken sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spinal atrophy, ophthalmoplegia, pyramidal syndrome	Finding site	Structure of visual system (body structure)	true	Inferred relationship	Some	2
Spinal atrophy, ophthalmoplegia, pyramidal syndrome	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Spinal atrophy, ophthalmoplegia, pyramidal syndrome	Is a	Spinal muscular atrophy	true	Inferred relationship	Some
Spinal atrophy, ophthalmoplegia, pyramidal syndrome	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Spinal atrophy, ophthalmoplegia, pyramidal syndrome	Is a	Ophthalmoplegia	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3705199011	Hamano Tsukamoto syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3705202018	Spinal atrophy, ophthalmoplegia, pyramidal syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705203011	Spinal atrophy, ophthalmoplegia, pyramidal syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705200014	A rare bulbospinal muscular atrophy characterised by generalised neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3705201013	A rare bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4201831000052114	syndrom med spinal muskelatrofi, oftalmoplegi och pyramidala tecken	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)