Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4603877012 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4603878019 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5399300013 | A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5399301012 | A rare genetic neurodegenerative disease characterised by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4603877012 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4603878019 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4603879010 | A rare genetic neurodegenerative disease with characteristics of childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5399300013 | A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5399301012 | A rare genetic neurodegenerative disease characterised by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3441861001000118 | Im Kindesalter beginnendes motorisches und kognitives Regressions-Syndrom mit extrapyramidaler Bewegungsstörung | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5789321000241117 | syndrome de régression motrice et cognitive débutant dans l'enfance avec syndrome extrapyramidal | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5789321000241117 | syndrome de régression motrice et cognitive débutant dans l'enfance avec syndrome extrapyramidal | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3441861001000118 | Im Kindesalter beginnendes motorisches und kognitives Regressions-Syndrom mit extrapyramidaler Bewegungsstörung | 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)
Description inactivation indicator reference set