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 |
| 3322642014 | Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322643016 | Fountain syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3322644010 | Deafness with skeletal dysplasia and lip granuloma syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322645011 | Deafness, skeletal dysplasia, coarse face with full lips syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322646012 | An extremely rare multi-systemic genetic disorder with characteristics of intellectual disability, deafness, skeletal abnormalities and coarse facial features.The syndrome is exceedingly rare and has been reported in only a few patients to date. Male and female patients have been described. The main clinical features include moderate to severe intellectual deficit, congenital sensorineural hearing impairment and broad, stubby hands and feet. A coarse face with full lips and cheeks is also found. These signs are reported to become more prominent with age. The pattern of inheritance appears to be autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Is a | Skeletal dysplasia | true | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | 3 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 3 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 4 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 2 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 3 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Is a | Congenital sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR