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 |
| 5399930014 | 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 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 |
| 5399931013 | 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 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | Is a | Microcephaly (finding) | true | Inferred relationship | Some | ||
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | Is a | Leukoencephalopathy | true | Inferred relationship | Some | ||
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | Is a | Inherited optic neuropathy | true | Inferred relationship | Some | ||
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | Is a | Neurodevelopmental disorder | true | Inferred relationship | Some | ||
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | Finding site | Optic nerve structure | true | Inferred relationship | Some | 3 | |
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | Finding site | 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) | Interprets | Head circumference | true | Inferred relationship | Some | 1 | |
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | Has interpretation | Below reference range | 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)
FHIR