Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3307535017 | Nanophthalmia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3307536016 | Nanophthalmia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 10221981000146111 | nanoftalmie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 10221991000146113 | nanoftalmie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3307537013 | A severe form of microphthalmia with characteristics of a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. Nanophthalmia is generally bilateral. Strabism is present in most patients. Mutations in the MFRP gene (11q23.1) have been found to be responsible for the hereditary form with recessive transmission. Chromosomal anomalies involving chromosome 11p and 2q11-14 have been identified for autosomal dominant forms of nanophthalmia. It may be inherited as an autosomal dominant or recessive trait, or may occur sporadically. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Nanophthalmia (disorder) | Is a | Microphthalmos | true | Inferred relationship | Some | ||
| Nanophthalmia (disorder) | Associated morphology | congenitale kleinheid | false | Inferred relationship | Some | 1 | |
| Nanophthalmia (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Nanophthalmia (disorder) | Finding site | geheel oog (lichaamsstructuur) | false | Inferred relationship | Some | 1 | |
| Nanophthalmia (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Nanophthalmia (disorder) | Finding site | Entire eye proper | true | Inferred relationship | Some | 1 | |
| Nanophthalmia (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) | Is a | True | Nanophthalmia (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR