723622007: X-linked spastic paraplegia type 2 (disorder)

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

\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)

\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)

\Neurological lesion\Leucodystrophy\X-linked spastic paraplegia type 2 (disorder)

\Finding of movement (finding)\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Finding of movement (finding)\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Finding of movement (finding)\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Finding of movement (finding)\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)

\Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Central nervous system finding\Second cranial nerve finding\X-linked spastic paraplegia type 2 (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\X-linked spastic paraplegia type 2 (disorder)
\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\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\X-linked spastic paraplegia type 2 (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)

\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\X-linked spastic paraplegia type 2 (disorder)
\Eye / vision finding\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\X-linked spastic paraplegia type 2 (disorder)
\Eye / vision finding\Second cranial nerve finding\X-linked spastic paraplegia type 2 (disorder)

\Neurological finding\Cranial nerve finding\Second cranial nerve finding\X-linked spastic paraplegia type 2 (disorder)
\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\X-linked spastic paraplegia type 2 (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\X-linked spastic paraplegia type 2 (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked spastic paraplegia type 2 (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\X-linked spastic paraplegia type 2 (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\X-linked spastic paraplegia type 2 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\X-linked spastic paraplegia type 2 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\X-linked spastic paraplegia type 2 (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\X-linked spastic paraplegia type 2 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\X-linked spastic paraplegia type 2 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\X-linked spastic paraplegia type 2 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\X-linked spastic paraplegia type 2 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\X-linked spastic paraplegia type 2 (disorder)
\Disease\Disorder of body system\Disorder 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\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\X-linked spastic paraplegia type 2 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\X-linked hereditary spastic paraplegia (disorder)\X-linked spastic paraplegia type 2 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3425300014 X-linked spastic paraplegia type 2 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3425301013 X-linked spastic paraplegia type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3425302018 Spastic gait type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3425303011 Spastic paraparesis type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3425304017 Spastic paraplegia type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3425305016 An X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated spastic paraplegia. Spastic paraplegia type 2 is due to missense substitutions affecting the PLP1 gene. PLP1 encodes the proteolipid protein (PLP), the most abundant protein of the myelin sheath in the central nervous system, and its alternatively spliced isoform (DM20). Transmission is X-linked recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3425306015 An X-linked leucodystrophy characterised primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated spastic paraplegia. Spastic paraplegia type 2 is due to missense substitutions affecting the PLP1 gene. PLP1 encodes the proteolipid protein (PLP), the most abundant protein of the myelin sheath in the central nervous system, and its alternatively spliced isoform (DM20). Transmission is X-linked recessive. 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
X-linked spastic paraplegia type 2 (disorder)	Is a	Hereditary spastic paraplegia	false	Inferred relationship	Some
X-linked spastic paraplegia type 2 (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked spastic paraplegia type 2 (disorder)	Is a	Leucodystrophy	true	Inferred relationship	Some
X-linked spastic paraplegia type 2 (disorder)	Is a	Inherited optic neuropathy	true	Inferred relationship	Some
X-linked spastic paraplegia type 2 (disorder)	Is a	Hereditary disorder of the visual system (disorder)	false	Inferred relationship	Some
X-linked spastic paraplegia type 2 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
X-linked spastic paraplegia type 2 (disorder)	Finding site	Optic nerve structure	false	Inferred relationship	Some	4
X-linked spastic paraplegia type 2 (disorder)	Associated morphology	dégénérescence	false	Inferred relationship	Some	5
X-linked spastic paraplegia type 2 (disorder)	Finding site	Spinal cord structure	false	Inferred relationship	Some	5
X-linked spastic paraplegia type 2 (disorder)	Finding site	Cerebellar structure	false	Inferred relationship	Some	5
X-linked spastic paraplegia type 2 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
X-linked spastic paraplegia type 2 (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Some	6
X-linked spastic paraplegia type 2 (disorder)	Associated morphology	Myelin sheath alteration	false	Inferred relationship	Some	6
X-linked spastic paraplegia type 2 (disorder)	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	6
X-linked spastic paraplegia type 2 (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	5
X-linked spastic paraplegia type 2 (disorder)	Finding site	Lower limb structure	false	Inferred relationship	Some	7
X-linked spastic paraplegia type 2 (disorder)	Associated morphology	dégénérescence	false	Inferred relationship	Some	1
X-linked spastic paraplegia type 2 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
X-linked spastic paraplegia type 2 (disorder)	Finding site	Spinal cord structure	true	Inferred relationship	Some	1
X-linked spastic paraplegia type 2 (disorder)	Is a	X-linked hereditary spastic paraplegia (disorder)	true	Inferred relationship	Some
X-linked spastic paraplegia type 2 (disorder)	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	5
X-linked spastic paraplegia type 2 (disorder)	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	3
X-linked spastic paraplegia type 2 (disorder)	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	3
X-linked spastic paraplegia type 2 (disorder)	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
X-linked spastic paraplegia type 2 (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked spastic paraplegia type 2 (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	6
X-linked spastic paraplegia type 2 (disorder)	Finding site	Optic nerve structure	true	Inferred relationship	Some	2
X-linked spastic paraplegia type 2 (disorder)	Finding site	Lower limb structure	false	Inferred relationship	Some	4
X-linked spastic paraplegia type 2 (disorder)	Is a	Second cranial nerve finding	true	Inferred relationship	Some
X-linked spastic paraplegia type 2 (disorder)	Interprets	Movement	true	Inferred relationship	Some	9
X-linked spastic paraplegia type 2 (disorder)	Finding site	Structure of right lower limb (body structure)	true	Inferred relationship	Some	4
X-linked spastic paraplegia type 2 (disorder)	Finding site	Structure of left lower limb (body structure)	true	Inferred relationship	Some	8
X-linked spastic paraplegia type 2 (disorder)	Interprets	Movement observable	true	Inferred relationship	Some	7
X-linked spastic paraplegia type 2 (disorder)	Has interpretation	Absent	true	Inferred relationship	Some	7

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
3425300014	X-linked spastic paraplegia type 2 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3425301013	X-linked spastic paraplegia type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3425302018	Spastic gait type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3425303011	Spastic paraparesis type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3425304017	Spastic paraplegia type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3425305016	An X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated spastic paraplegia. Spastic paraplegia type 2 is due to missense substitutions affecting the PLP1 gene. PLP1 encodes the proteolipid protein (PLP), the most abundant protein of the myelin sheath in the central nervous system, and its alternatively spliced isoform (DM20). Transmission is X-linked recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3425306015	An X-linked leucodystrophy characterised primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated spastic paraplegia. Spastic paraplegia type 2 is due to missense substitutions affecting the PLP1 gene. PLP1 encodes the proteolipid protein (PLP), the most abundant protein of the myelin sheath in the central nervous system, and its alternatively spliced isoform (DM20). Transmission is X-linked recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core