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 |
| 3304769010 | Upper limb defect with eye and ear abnormalities syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304770011 | Upper limb defect with eye and ear abnormalities syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 749281000241117 | anomalies du membre supérieur, de l'oeil et de l'oreille (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 884181000172111 | anomalies du membre supérieur, de l'oeil et de l'oreille | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3304771010 | This syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. This syndrome has been reported in two siblings. The inheritance is probably autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | localisation d'une constatation (attribut) | oreille | true | Inferred relationship | Some | 1 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of eye | true | Inferred relationship | Some | ||
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | est un(e) (attribut) | malformation congénitale de l'oreille | true | Inferred relationship | Some | ||
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 2 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | localisation d'une constatation (attribut) | oreille | false | Inferred relationship | Some | 2 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | localisation d'une constatation (attribut) | Structure of eye proper (body structure) | false | Inferred relationship | Some | 3 | |
| Upper limb defect with eye and ear abnormalities syndrome (disorder) | localisation d'une constatation (attribut) | Structure of eye proper (body structure) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR