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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
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
5323781000052110 autosomalt recessiv komplex spastisk paraplegi orsakad av dysfunktion hos Kennedys väg sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


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 Intellectual disability true Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a Disorder of lipid metabolism true Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Finding site Spinal cord structure false Inferred relationship Some 2
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) false Inferred relationship Some 2
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Occurrence Congenital false Inferred relationship Some 3
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Finding site Lower limb structure false Inferred relationship Some 3
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a Chronic metabolic disorder true Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a Chronic mental disorder false Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 4
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Finding site Lower limb structure false Inferred relationship Some 2
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Finding site Spinal cord structure true Inferred relationship Some 3
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Some 3
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 5
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Has interpretation Impaired true Inferred relationship Some 5
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 6
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Has interpretation Impaired true Inferred relationship Some 6
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Interprets Movement true Inferred relationship Some 7
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 2
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Some 8
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Has interpretation Absent true Inferred relationship Some 9
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Interprets Movement observable true Inferred relationship Some 9

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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