778048001: MT-ATP6-gerelateerde mitochondriale spastische paraplegie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Finding of movement (finding)\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Finding of movement (finding)\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Finding of movement (finding)\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Finding of movement (finding)\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (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\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (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\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Complete bilateral paralysis\Paraplegia\...
• \Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Disease\Genetic disease\Hereditary disease\Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (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\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (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\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (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\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (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\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (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\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Disease\Metabolic disease\Chronic metabolic disorder\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Disease\Chronic disease\Chronic metabolic disorder\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)

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
3737505015	Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3737506019	Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3737507011	Maternally-inherited spastic paraplegia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3737508018	MT-ATP6-related mitochondrial spastic paraplegia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6174501000146117	MT-ATP6-gerelateerde mitochondriale spastische paraplegie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6174511000146115	MT-ATP6-gerelateerde mitochondriale spastische paraplegie (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3737448011	A rare genetic complex hereditary spastic paraplegia disorder with characteristics of adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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