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


Status: current, Primitive. 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 Case sensitive SNOMED CT core
3425301013 X-linked spastic paraplegia type 2 en Synonym Active Case sensitive SNOMED CT core
3425302018 Spastic gait type 2 en Synonym Active Case insensitive SNOMED CT core
3425303011 Spastic paraparesis type 2 en Synonym Active Case insensitive SNOMED CT core
3425304017 Spastic paraplegia type 2 en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spastic paraplegia type 2 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spastic paraplegia type 2 Is a X-linked recessive hereditary disease true Inferred relationship Some
Spastic paraplegia type 2 Clinical course Progressive true Inferred relationship Some 6
Spastic paraplegia type 2 Finding site Optic nerve structure true Inferred relationship Some 2
Spastic paraplegia type 2 Finding site Structure of lower limb false Inferred relationship Some 4
Spastic paraplegia type 2 Is a Optic nerve finding true Inferred relationship Some
Spastic paraplegia type 2 Interprets Movement true Inferred relationship Some 9
Spastic paraplegia type 2 Finding site Structure of right lower limb true Inferred relationship Some 4
Spastic paraplegia type 2 Finding site Structure of left lower limb true Inferred relationship Some 8
Spastic paraplegia type 2 Interprets Movement observable true Inferred relationship Some 7
Spastic paraplegia type 2 Has interpretation Absent true Inferred relationship Some 7
Spastic paraplegia type 2 Is a Hereditary spastic paraplegia false Inferred relationship Some
Spastic paraplegia type 2 Is a X-linked hereditary disease false Inferred relationship Some
Spastic paraplegia type 2 Is a Leucodystrophy true Inferred relationship Some
Spastic paraplegia type 2 Is a Inherited optic neuropathy true Inferred relationship Some
Spastic paraplegia type 2 Is a Hereditary disorder of the visual system false Inferred relationship Some
Spastic paraplegia type 2 Occurrence Congenital false Inferred relationship Some 4
Spastic paraplegia type 2 Finding site Optic nerve structure false Inferred relationship Some 4
Spastic paraplegia type 2 Associated morphology Degeneration false Inferred relationship Some 5
Spastic paraplegia type 2 Finding site Spinal cord structure false Inferred relationship Some 5
Spastic paraplegia type 2 Finding site Cerebellar structure false Inferred relationship Some 5
Spastic paraplegia type 2 Occurrence Congenital false Inferred relationship Some 7
Spastic paraplegia type 2 Associated morphology Dystrophy false Inferred relationship Some 6
Spastic paraplegia type 2 Associated morphology Myelin sheath alteration false Inferred relationship Some 6
Spastic paraplegia type 2 Finding site Structure of nervous system false Inferred relationship Some 6
Spastic paraplegia type 2 Associated morphology Dystrophy true Inferred relationship Some 5
Spastic paraplegia type 2 Finding site Structure of lower limb false Inferred relationship Some 7
Spastic paraplegia type 2 Associated morphology Degeneration false Inferred relationship Some 1
Spastic paraplegia type 2 Occurrence Congenital false Inferred relationship Some 1
Spastic paraplegia type 2 Finding site Spinal cord structure true Inferred relationship Some 1
Spastic paraplegia type 2 Is a X-linked hereditary spastic paraplegia true Inferred relationship Some
Spastic paraplegia type 2 Finding site White matter structure of brain and spinal cord true Inferred relationship Some 5
Spastic paraplegia type 2 Associated morphology Myelin sheath alteration true Inferred relationship Some 3
Spastic paraplegia type 2 Finding site Myelinated nerve fibre structure true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Unit of use quantity reference set

Description inactivation indicator reference set

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