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 |
| 4634481014 | Ocular anomalies, axonal neuropathy, developmental delay syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4634482019 | Harel Yoon syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4634483012 | Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5399328019 | A rare mitochondrial disease characterized by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399329010 | A rare mitochondrial disease characterised by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Ocular anomalies, axonal neuropathy, developmental delay syndrome | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
| Ocular anomalies, axonal neuropathy, developmental delay syndrome | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Ocular anomalies, axonal neuropathy, developmental delay syndrome | Is a | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | ||
| Ocular anomalies, axonal neuropathy, developmental delay syndrome | Is a | Inherited optic neuropathy | true | Inferred relationship | Some | ||
| Ocular anomalies, axonal neuropathy, developmental delay syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Ocular anomalies, axonal neuropathy, developmental delay syndrome | Is a | Axonal neuropathy | true | Inferred relationship | Some | ||
| Ocular anomalies, axonal neuropathy, developmental delay syndrome | Is a | Optic atrophy | true | Inferred relationship | Some | ||
| Ocular anomalies, axonal neuropathy, developmental delay syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Ocular anomalies, axonal neuropathy, developmental delay syndrome | Finding site | Optic nerve structure | true | Inferred relationship | Some | 1 | |
| Ocular anomalies, axonal neuropathy, developmental delay syndrome | Associated morphology | Atrophy | true | Inferred relationship | Some | 1 | |
| Ocular anomalies, axonal neuropathy, developmental delay syndrome | Finding site | Axon structure | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR