Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5036008011 | Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5036012017 | Phospholipase A2 activating protein-associated neurodevelopmental disorder | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5036013010 | PLAA-associated neurodevelopmental disorder | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5036014016 | PLAAND - phospholipase A2 activating protein-associated neurodevelopmental disorder | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5036015015 | A rare genetic neurological disorder characterised by infantile onset of progressive leucoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia and hypomimia or amimia, as well as progressive chest deformities and contractures of large joints and hyperextensibility of small joints among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leucoencephalopathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5036016019 | A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia and hypomimia or amimia, as well as progressive chest deformities and contractures of large joints and hyperextensibility of small joints among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | est un(e) (attribut) | Microcephaly (finding) | true | Inferred relationship | Some | ||
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | est un(e) (attribut) | Global developmental delay | true | Inferred relationship | Some | ||
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | est un(e) (attribut) | leuco-encéphalopathie | true | Inferred relationship | Some | ||
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | est un(e) (attribut) | Inherited optic neuropathy | true | Inferred relationship | Some | ||
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | est un(e) (attribut) | Neurodevelopmental disorder | true | Inferred relationship | Some | ||
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | est un(e) (attribut) | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 2 | |
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | localisation d'une constatation (attribut) | Optic nerve structure | true | Inferred relationship | Some | 3 | |
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | localisation d'une constatation (attribut) | Cerebral white matter structure | true | Inferred relationship | Some | 4 | |
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | interprète (attribut) | Head circumference | true | Inferred relationship | Some | 1 | |
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR