715504003: Spastic paraparesis co-occurrent with deafness (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Spastic paraparesis and deafness
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Spastic paraparesis and deafness

\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Spastic paraparesis and deafness
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Spastic paraparesis and deafness
\Finding of limb structure (finding)\Finding of lower limb (finding)\Paresis of lower extremity\Spastic paraparesis\Spastic paraparesis and deafness

\General finding of soft tissue\Finding of power of skeletal muscle (finding)\Muscle weakness\Paresis of lower extremity\Spastic paraparesis\Spastic paraparesis and deafness
\General finding of soft tissue\Spasticity\Spastic paraparesis\Spastic paraparesis and deafness
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Spastic paraparesis and deafness

\Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Spastic paraparesis and deafness
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Spastic paraparesis and deafness
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Spastic paraparesis and deafness
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Spastic paraparesis and deafness

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Spastic paraparesis and deafness
\Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Spastic paraparesis and deafness
\Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Spastic paraparesis and deafness

\Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Spastic paraparesis and deafness

\Muscle finding (finding)\Finding of muscle tone (finding)\Increased muscle tone\Spasticity\Spastic paraparesis\Spastic paraparesis and deafness
\Muscle finding (finding)\Finding of power of skeletal muscle (finding)\Muscle weakness\Paresis of lower extremity\Spastic paraparesis\Spastic paraparesis and deafness
\Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Spastic paraparesis and deafness

\Musculoskeletal finding (finding)\Finding of power of skeletal muscle (finding)\Muscle weakness\Paresis of lower extremity\Spastic paraparesis\Spastic paraparesis and deafness
\Musculoskeletal finding (finding)\Spasticity\Spastic paraparesis\Spastic paraparesis and deafness
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Spastic paraparesis and deafness
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Spastic paraparesis and deafness

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Spastic paraparesis and deafness
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Spastic paraparesis and deafness
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Spastic paraparesis and deafness
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Spastic paraparesis and deafness
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Spastic paraparesis and deafness
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Spastic paraparesis and deafness
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Spastic paraparesis and deafness
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Spastic paraparesis and deafness
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Spastic paraparesis and deafness
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Spastic paraparesis and deafness
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Spastic paraparesis and deafness
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Spastic paraparesis and deafness
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Spastic paraparesis and deafness
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Spastic paraparesis and deafness
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Spastic paraparesis and deafness
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Spastic paraparesis and deafness
\Disease\Disorder of muscle\Disorder of skeletal muscle\Spastic paraparesis and deafness
\Disease\Disorder of limb\Disorder of lower limb\Spastic paraparesis and deafness
\Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Spastic paraparesis and deafness
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Spastic paraparesis and deafness

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3302850010 Spastic paraparesis co-occurrent with deafness (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302851014 Spastic paraparesis co-occurrent with deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302852019 Spastic paraparesis and deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302853012 Wells Jankovic syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400931018 A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400932013 A rare neurologic disease characterised by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3302850010 Spastic paraparesis co-occurrent with deafness (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3302850010 Spastic paraparesis co-occurrent with deafness (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302851014 Spastic paraparesis co-occurrent with deafness en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3302851014 Spastic paraparesis co-occurrent with deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302852019 Spastic paraparesis and deafness en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3302852019 Spastic paraparesis and deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302853012 Wells Jankovic syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3302854018 A chronic neurodegenerative disorder with features of spastic paraparesis (beginning at about 10 years of age) and hearing deficits. It has been described in affecting at least six male members spanning three generations of a large family. Some relatives presented with tremor, cataracts, sensory deficits, short stature, hypogonadism, elevated cerebrospinal fluid protein, and/or absent or prolonged somatosensory evoked potentials. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400931018 A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400932013 A rare neurologic disease characterised by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3422351001000118 Spastische Paraparese-Schwerhörigkeit-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3422351001000118 Spastische Paraparese-Schwerhörigkeit-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spastic paraparesis and deafness	Is a	Degenerative brain disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic paraparesis and deafness	Is a	Disorder of skeletal muscle	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic paraparesis and deafness	Is a	Disorder of lower limb	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic paraparesis and deafness	Is a	Spastic paraparesis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic paraparesis and deafness	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic paraparesis and deafness	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic paraparesis and deafness	Is a	Hereditary disorder of nervous system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic paraparesis and deafness	Finding site	Lower limb structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Spastic paraparesis and deafness	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spastic paraparesis and deafness	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Spastic paraparesis and deafness	Has interpretation	Increased	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Spastic paraparesis and deafness	Interprets	Muscle tone	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Spastic paraparesis and deafness	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Spastic paraparesis and deafness	Finding site	Brain tissue structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Spastic paraparesis and deafness	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spastic paraparesis and deafness	Finding site	Brain tissue structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spastic paraparesis and deafness	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic paraparesis and deafness	Is a	Hearing loss	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic paraparesis and deafness	Interprets	Hearing	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Spastic paraparesis and deafness	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3302850010	Spastic paraparesis co-occurrent with deafness (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302851014	Spastic paraparesis co-occurrent with deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302852019	Spastic paraparesis and deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302853012	Wells Jankovic syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400931018	A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400932013	A rare neurologic disease characterised by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302850010	Spastic paraparesis co-occurrent with deafness (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302850010	Spastic paraparesis co-occurrent with deafness (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302851014	Spastic paraparesis co-occurrent with deafness	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302851014	Spastic paraparesis co-occurrent with deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302852019	Spastic paraparesis and deafness	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302852019	Spastic paraparesis and deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302853012	Wells Jankovic syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302854018	A chronic neurodegenerative disorder with features of spastic paraparesis (beginning at about 10 years of age) and hearing deficits. It has been described in affecting at least six male members spanning three generations of a large family. Some relatives presented with tremor, cataracts, sensory deficits, short stature, hypogonadism, elevated cerebrospinal fluid protein, and/or absent or prolonged somatosensory evoked potentials.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400931018	A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400932013	A rare neurologic disease characterised by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3422351001000118	Spastische Paraparese-Schwerhörigkeit-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3422351001000118	Spastische Paraparese-Schwerhörigkeit-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module