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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | survenue (attribut) | congénital | 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) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 1 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 2 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 2 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 4 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | est un(e) (attribut) | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 3 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | est un(e) (attribut) | Congenital sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | a pour interprétation (attribut) | altéré | true | Inferred relationship | Some | 4 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | est un(e) (attribut) | Skeletal dysplasia | true | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | est un(e) (attribut) | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | localisation d'une constatation (attribut) | oreille | false | Inferred relationship | Some | 3 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | localisation d'une constatation (attribut) | face | false | Inferred relationship | Some | 3 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 4 | |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR