Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3307535017 | Nanophthalmia (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3307536016 | Nanophthalmia | en | Synonym | Active | Case insensitive | SNOMED CT core |
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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Nanophthalmia | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Nanophthalmia | Is a | Microphthalmos | true | Inferred relationship | Some | ||
Nanophthalmia | Associated morphology | Congenital smallness | true | Inferred relationship | Some | 1 | |
Nanophthalmia | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Nanophthalmia | Finding site | Entire eye | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Retinal degeneration, nanophthalmos, glaucoma syndrome | Is a | True | Nanophthalmia | Inferred relationship | Some |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set