Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3761048015 | Otopalatodigital syndrome spectrum disorder | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3761049011 | OPD (otopalatodigital) spectrum disorder | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3761050011 | Otopalatodigital syndrome spectrum disorder (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3761255014 | A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3761256010 | A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Otopalatodigital syndrome spectrum disorder | Is a | Skeletal dysplasia | true | Inferred relationship | Some | ||
| Otopalatodigital syndrome spectrum disorder | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Otopalatodigital syndrome spectrum disorder | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Otopalatodigital syndrome spectrum disorder | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Otopalatodigital syndrome spectrum disorder | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Otopalatodigital syndrome spectrum disorder | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Otopalatodigital syndrome spectrum disorder | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Otopalatodigital syndrome spectrum disorder | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Otopalatodigital syndrome spectrum disorder | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Otopalatodigital syndrome spectrum disorder | Is a | X-linked dominant hereditary disease (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Frontometaphyseal dysplasia | Is a | True | Otopalatodigital syndrome spectrum disorder | Inferred relationship | Some | |
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Is a | True | Otopalatodigital syndrome spectrum disorder | Inferred relationship | Some | |
| Oto-palato-digital syndrome, type I | Is a | True | Otopalatodigital syndrome spectrum disorder | Inferred relationship | Some | |
| Oto-palato-digital syndrome, type II | Is a | True | Otopalatodigital syndrome spectrum disorder | Inferred relationship | Some | |
| Melnick-Needles syndrome | Is a | True | Otopalatodigital syndrome spectrum disorder | Inferred relationship | Some |
This concept is not in any reference sets
FHIR