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778048001: 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
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
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
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
3412001001000113 Mitochondriale spastische Paraplegie, MT-ATP6-assoziierte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3412001001000113 Mitochondriale spastische Paraplegie, MT-ATP6-assoziierte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
MT-ATP6-related mitochondrial spastic paraplegia Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
MT-ATP6-related mitochondrial spastic paraplegia Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
MT-ATP6-related mitochondrial spastic paraplegia Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
MT-ATP6-related mitochondrial spastic paraplegia Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 2
MT-ATP6-related mitochondrial spastic paraplegia Is a Complicated hereditary spastic paraplegia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
MT-ATP6-related mitochondrial spastic paraplegia Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
MT-ATP6-related mitochondrial spastic paraplegia Is a Mitochondrial cytopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
MT-ATP6-related mitochondrial spastic paraplegia Associated morphology Degenerative abnormality (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
MT-ATP6-related mitochondrial spastic paraplegia Is a Chronic metabolic disorder true Inferred relationship Existential restriction modifier (core metadata concept)
MT-ATP6-related mitochondrial spastic paraplegia Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 3
MT-ATP6-related mitochondrial spastic paraplegia Is a Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
MT-ATP6-related mitochondrial spastic paraplegia Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
MT-ATP6-related mitochondrial spastic paraplegia Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
MT-ATP6-related mitochondrial spastic paraplegia Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
MT-ATP6-related mitochondrial spastic paraplegia Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 6
MT-ATP6-related mitochondrial spastic paraplegia Finding site Structure of right lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
MT-ATP6-related mitochondrial spastic paraplegia Finding site Structure of left lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
MT-ATP6-related mitochondrial spastic paraplegia Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 4
MT-ATP6-related mitochondrial spastic paraplegia Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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