Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5305737011 | Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5305738018 | IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5305739014 | Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5305740011 | A rare genetic neurological disorder with characteristics of childhood onset of severe global neurodevelopmental regression with eventual loss of independent walking and loss of language and fine and gross motor skills, and development of severe dysphagia requiring tube feeding, seizures, cerebellar syndrome, dystonia, and other neurologic manifestations. Brain imaging shows progressive cerebral and/or cerebellar atrophy in most cases. A less severe phenotype associated with missense mutations shows no regression or movement abnormalities, ambulation is preserved, and brain imaging is normal. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome | Is a | Dystonia | true | Inferred relationship | Some | ||
| IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome | Is a | Genetic disease | true | Inferred relationship | Some | ||
| IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
| IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
| IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome | Interprets | Movement | true | Inferred relationship | Some | 4 | |
| IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome | Finding site | Extrapyramidal system structure | true | Inferred relationship | Some | 3 | |
| IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome | Is a | Neurodevelopmental disorder | true | Inferred relationship | Some | ||
| IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome | Is a | Seizure disorder | true | Inferred relationship | Some | ||
| IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome | Is a | Degenerative brain disorder | true | Inferred relationship | Some | ||
| IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome | Finding site | Brain structure | true | Inferred relationship | Some | 1 |
| 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
FHIR