Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3330735017 | Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3330736016 | Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3330737013 | This syndrome has characteristics of severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of skeletal bone | false | Inferred relationship | Some | ||
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 1 | |
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 2 | |
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | false | Inferred relationship | Some | 1 | |
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | localisation d'une constatation (attribut) | face | false | Inferred relationship | Some | 1 | |
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | morphologie associée (attribut) | Osteopenia | false | Inferred relationship | Some | 2 | |
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 2 | |
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | false | Inferred relationship | Some | ||
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Sensorineural hearing loss | false | Inferred relationship | Some | ||
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | false | Inferred relationship | Some | ||
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Osteopenia | false | Inferred relationship | Some | ||
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | false | Inferred relationship | Some | ||
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | affection congénitale du tissu conjonctif | false | Inferred relationship | Some | ||
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | localisation d'une constatation (attribut) | structure du système auditif | false | Inferred relationship | Some | 3 | |
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | interprète (attribut) | Hearing, function (observable entity) | false | Inferred relationship | Some | 4 | |
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | interprète (attribut) | entité observable fonctionnelle | false | Inferred relationship | Some | ||
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | morphologie associée (attribut) | Osteopenia | false | Inferred relationship | Some | 5 | |
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 5 | |
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 6 | |
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | localisation d'une constatation (attribut) | face | false | Inferred relationship | Some | 6 | |
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Intellectual disability | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR