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 |
| 3323449017 | Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323450017 | Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323451018 | Syndrome with the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphism, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Is a | Dentinogenesis imperfecta | true | Inferred relationship | Some | ||
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | 3 | |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 2 | |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Interprets | Functional observable | false | Inferred relationship | Some | ||
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Finding site | Tooth structure | false | Inferred relationship | Some | 4 | |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Finding site | Tooth structure | false | Inferred relationship | Some | 1 | |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Is a | Congenital anomaly of tooth (disorder) | false | Inferred relationship | Some | ||
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 4 | |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 3 | |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Is a | Developmental hereditary disorder | false | Inferred relationship | Some | ||
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 5 | |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Finding site | Dentin structure | true | Inferred relationship | Some | 1 | |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 6 | |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 7 | |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 7 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR