Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3755623014 | Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3755624015 | Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3755625019 | FHONDA (foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3755626018 | FHONDA syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3755627010 | A rare genetic eye disease with characteristics of foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and occasionally strabismus. Microphthalmia and retinochoroidal coloboma may also be associated. There is the disease is caused by homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Finding site | Structure of fovea centralis | true | Inferred relationship | Some | 3 | |
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Is a | Irido-corneal dysgenesis | false | Inferred relationship | Some | ||
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Is a | Congenital anomaly of central nervous system | false | Inferred relationship | Some | ||
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Is a | Optic chiasm disorder | true | Inferred relationship | Some | ||
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Is a | Congenital hypoplasia of fovea centralis (disorder) | true | Inferred relationship | Some | ||
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 3 | |
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Finding site | Anterior eyeball segment structure | true | Inferred relationship | Some | 2 | |
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Finding site | Structure of optic chiasma (body structure) | true | Inferred relationship | Some | 1 | |
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Is a | Congenital anomaly of anterior segment of eye (disorder) | true | Inferred relationship | Some | ||
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Is a | Congenital anomaly of cerebrum (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR