778048001: Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of back\Finding of spinal region\Disorder of spinal region\Spinal cord disorder\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disorder\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disorder\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia

\Finding of limb structure\Disorder of extremity\Disorder of lower extremity\Disorder of left lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Finding of limb structure\Disorder of extremity\Disorder of lower extremity\Disorder of left lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Finding of limb structure\Disorder of extremity\Disorder of lower extremity\Disorder of right lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Finding of limb structure\Disorder of extremity\Disorder of lower extremity\Disorder of right lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity\Disorder of left lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity\Disorder of left lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity\Disorder of right lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity\Disorder of right lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia

\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Finding of movement\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
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Finding of movement\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

\Central nervous system finding\Finding of spinal cord\Spinal cord disorder\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Central nervous system finding\Disorder of the central nervous system\Spastic syndrome\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Central nervous system finding\Disorder of the central nervous system\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
\Central nervous system finding\Disorder of the central nervous system\Spinal cord disorder\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia

\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\...

\Paralytic syndrome of bilateral lower limbs\Paraplegia\...

\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia

\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia

\Complete bilateral paralysis\Paraplegia\...

\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia

\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia

\Disease\Genetic disease\Hereditary disease\Maternally inherited mitochondrial deoxyribonucleic acid disease\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\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
\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
\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
\Disease\Disorder of body system\Disorder of nervous 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
\Disease\Disorder of body system\Disorder of nervous system\Chronic nervous system disorder\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Disease\Disorder of body system\Disorder of nervous system\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Disease\Disorder of body system\Disorder of nervous system\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Spastic syndrome\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\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
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Spinal cord disorder\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Disease\Disorder of extremity\Disorder of lower extremity\Disorder of left lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Disease\Disorder of extremity\Disorder of lower extremity\Disorder of left lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Disease\Disorder of extremity\Disorder of lower extremity\Disorder of right lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Disease\Disorder of extremity\Disorder of lower extremity\Disorder of right lower extremity\Paralytic syndrome of bilateral lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Disease\Metabolic disease\Chronic metabolic disorder\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\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
\Disease\Disorder of back\Disorder of spinal region\Spinal cord disorder\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Disease\Chronic disease\Chronic metabolic disorder\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
\Disease\Chronic disease\Chronic nervous system disorder\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3737505015 Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia en Synonym Active Only initial character case insensitive SNOMED CT core module

3737506019 Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3737507011 Maternally-inherited spastic paraplegia en Synonym Active Entire term case insensitive SNOMED CT core module

3737508018 MT-ATP6-related mitochondrial spastic paraplegia en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	1
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia	Finding site	Spinal cord structure	false	Inferred relationship	Existential restriction modifier	2
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia	Associated morphology	Degeneration	false	Inferred relationship	Existential restriction modifier	2
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia	Is a	Complicated hereditary spastic paraplegia	true	Inferred relationship	Existential restriction modifier
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia	Finding site	Lower limb structure	false	Inferred relationship	Existential restriction modifier	1
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia	Is a	Mitochondrial cytopathy	true	Inferred relationship	Existential restriction modifier
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia	Associated morphology	Degenerative abnormality	false	Inferred relationship	Existential restriction modifier	2
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia	Is a	Chronic metabolic disorder	true	Inferred relationship	Existential restriction modifier
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	3
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia	Is a	Maternally inherited mitochondrial deoxyribonucleic acid disease	true	Inferred relationship	Existential restriction modifier
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia	Finding site	Lower limb structure	false	Inferred relationship	Existential restriction modifier	2
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia	Finding site	Spinal cord structure	true	Inferred relationship	Existential restriction modifier	1
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia	Associated morphology	Degenerative abnormality	true	Inferred relationship	Existential restriction modifier	1
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia	Interprets	Movement	true	Inferred relationship	Existential restriction modifier	6
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia	Finding site	Structure of right lower limb	true	Inferred relationship	Existential restriction modifier	2
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia	Finding site	Structure of left lower limb	true	Inferred relationship	Existential restriction modifier	5
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia	Interprets	Movement observable	true	Inferred relationship	Existential restriction modifier	4
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia	Has interpretation	Absent	true	Inferred relationship	Existential restriction modifier	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3737505015	Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3737506019	Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3737507011	Maternally-inherited spastic paraplegia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3737508018	MT-ATP6-related mitochondrial spastic paraplegia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module