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 |
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 |
545761000274119 | FHONDA-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3393751001000112 | Foveahypoplasie-Sehnervenkreuzung-Dysgenesie des vorderen Augensegmentes-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6178241000241110 | syndrome d'hypoplasie fovéolaire, défaut de décussation du nerf optique et dysgénésie du segment antérieur | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6178251000241113 | syndrome FHONDA (foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis) | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6178261000241111 | syndrome d'hypoplasie fovéolaire, défaut de décussation du deuxième nerf crânien et dysgénésie du segment antérieur | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6178241000241110 | syndrome d'hypoplasie fovéolaire, défaut de décussation du nerf optique et dysgénésie du segment antérieur | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6178251000241113 | syndrome FHONDA (foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis) | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6178261000241111 | syndrome d'hypoplasie fovéolaire, défaut de décussation du deuxième nerf crânien et dysgénésie du segment antérieur | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
545761000274119 | FHONDA-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3393751001000112 | Foveahypoplasie-Sehnervenkreuzung-Dysgenesie des vorderen Augensegmentes-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets