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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of movement\Movement disorder\Paralytic syndrome\Ophthalmoplegia\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.
• \Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\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.
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system\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.
• \Disorder of eye movements\Disorders characterised by eye movement abnormalities that are the result of brain, cranial nerve, or neuromuscular junction dysfunction.\Ophthalmoplegia\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.
• \Neurological finding (finding)\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\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.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\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.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\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.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\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.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\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.
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\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.
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Disorders characterised by eye movement abnormalities that are the result of brain, cranial nerve, or neuromuscular junction dysfunction.\Ophthalmoplegia\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.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\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.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder\Spinal muscular atrophy\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.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorders characterised by eye movement abnormalities that are the result of brain, cranial nerve, or neuromuscular junction dysfunction.\Ophthalmoplegia\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.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Lower motor neuron disease\Spinal muscular atrophy\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.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Hereditary motor neuron disease\Spinal muscular atrophy\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.
• \Disease\Movement disorder\Paralytic syndrome\Ophthalmoplegia\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.
• \Disease\Chronic disease\Chronic nervous system disorder\Spinal muscular atrophy\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.

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
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
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

Expanded Value Set

This concept is not in any reference sets

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