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 |
| 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402534014 | Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402535010 | Fountain syndrome is an extremely rare multi-systemic genetic disorder characterised by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Is a | mental retardering | false | Inferred relationship | Some | ||
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Is a | Skeletal dysplasia | true | Inferred relationship | Some | ||
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Finding site | Ear structure (body structure) | false | Inferred relationship | Some | 3 | |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Associated morphology | dysgenese | false | Inferred relationship | Some | 3 | |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Finding site | Face structure | false | Inferred relationship | Some | 3 | |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 4 | |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Finding site | Bone structure | false | Inferred relationship | Some | 4 | |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Finding site | Bone structure | true | Inferred relationship | Some | 2 | |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 2 | |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 3 | |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Is a | Congenital sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Interprets | Intellectual ability | true | Inferred relationship | Some | 5 | |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. | Has interpretation | Impaired | true | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR