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 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)