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1186734006: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4667503012 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4667504018 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5399540018 A rare genetic neurological disorder characterized by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate, and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399541019 A rare genetic neurological disorder characterised by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate, and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4667503012 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4667504018 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4667505017 A rare genetic neurological disorder with characteristics of progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399540018 A rare genetic neurological disorder characterized by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate, and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399541019 A rare genetic neurological disorder characterised by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate, and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3433261001000117 Autosomal-rezessive komplexe spastische Paraplegie durch Störung im Kennedy-Stoffwechselweg de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5768821000241117 paraplégie spastique complexe autosomique récessive due à un dysfonctionnement de la voie de Kennedy fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5768821000241117 paraplégie spastique complexe autosomique récessive due à un dysfonctionnement de la voie de Kennedy fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3433261001000117 Autosomal-rezessive komplexe spastische Paraplegie durch Störung im Kennedy-Stoffwechselweg 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
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a Complicated hereditary spastic paraplegia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a Disorder of lipid metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a Chronic metabolic disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a Chronic mental disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 7
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 9
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 9

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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