Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3332079015 | Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332080017 | Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332081018 | EDICT syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3332082013 | EDICT (endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3332083015 | Autosomal dominant keratoconus with early-onset anterior polar cataract | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332084014 | Familial keratoconus with cataract | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6950781000146113 | syndroom van endotheeldystrofie, irishypoplasie, congenitaal cataract en stromale verdunning (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6950791000146110 | syndroom van endotheeldystrofie, irishypoplasie, congenitaal cataract en stromale verdunning | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6950801000146114 | familiaire keratoconus met cataract | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6950811000146111 | syndroom van endotheeldystrofie, hypoplasie van iris, congenitaal cataract en keratoconus | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3332085010 | A very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy and iris hypoplasia. There is evidence this syndrome is caused by heterozygous mutation in the MIR184 gene on chromosome 15q25. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) | Is a | Irido-corneal dysgenesis | false | Inferred relationship | Some | ||
| Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) | Finding site | Anterior eyeball segment structure | true | Inferred relationship | Some | 1 | |
| Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) | Is a | Congenital anomaly of anterior segment of eye (disorder) | true | Inferred relationship | Some | ||
| Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR