Status: retired, 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 |
3664416013 | Otopalatodigital syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3664417016 | Otopalatodigital syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3664418014 | Syndrome with characteristics of deafness, cleft palate and digital anomalies, which is divided into two forms, based on severity: the milder form designated Otopalatodigital syndrome type 1 (OPD1), and the more severe and often lethal form designated Otopalatodigital syndrome type 2 (OPD2). Otopalatodigital syndrome (OPD) is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4185201000052117 | oto-palato-digitalt syndrom | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Oto-palato-digital syndrome, type I | Is a | False | oto-palato-digitalt syndrom | Inferred relationship | Some | |
Oto-palato-digital syndrome, type II | Is a | False | oto-palato-digitalt syndrom | Inferred relationship | Some |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)