Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3302639010 | Mirror hands and feet co-occurrent with nasal defect (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3302640012 | Mirror hands and feet co-occurrent with nasal defect | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3302641011 | Laurin Sandrow syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3302642016 | Sandrow syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5400899015 | Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5400900013 | Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported and may represent the same entity. The aetiology of LSS is unknown. Different modes of inheritance have been suggested. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Mirror hands and feet co-occurrent with nasal defect (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Mirror hands and feet co-occurrent with nasal defect (disorder) | Is a | Polysyndactyly syndrome | false | Inferred relationship | Some | ||
Mirror hands and feet co-occurrent with nasal defect (disorder) | Is a | Dysostosis of bone of skull | false | Inferred relationship | Some | ||
Mirror hands and feet co-occurrent with nasal defect (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Mirror hands and feet co-occurrent with nasal defect (disorder) | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
Mirror hands and feet co-occurrent with nasal defect (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Mirror hands and feet co-occurrent with nasal defect (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Mirror hands and feet co-occurrent with nasal defect (disorder) | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 2 | |
Mirror hands and feet co-occurrent with nasal defect (disorder) | Finding site | Digit structure | true | Inferred relationship | Some | 2 | |
Mirror hands and feet co-occurrent with nasal defect (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
Mirror hands and feet co-occurrent with nasal defect (disorder) | Finding site | Bone structure of cranium | false | Inferred relationship | Some | 3 | |
Mirror hands and feet co-occurrent with nasal defect (disorder) | Associated morphology | Supernumerary structure | false | Inferred relationship | Some | 1 | |
Mirror hands and feet co-occurrent with nasal defect (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Mirror hands and feet co-occurrent with nasal defect (disorder) | Finding site | Digit structure | true | Inferred relationship | Some | 1 | |
Mirror hands and feet co-occurrent with nasal defect (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Mirror hands and feet co-occurrent with nasal defect (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Mirror hands and feet co-occurrent with nasal defect (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Mirror hands and feet co-occurrent with nasal defect (disorder) | Associated morphology | Supernumerary structure | true | Inferred relationship | Some | 2 | |
Mirror hands and feet co-occurrent with nasal defect (disorder) | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 1 | |
Mirror hands and feet co-occurrent with nasal defect (disorder) | Associated morphology | Dysplasia | false | Inferred relationship | Some | 3 | |
Mirror hands and feet co-occurrent with nasal defect (disorder) | Is a | Polysyndactyly (disorder) | true | Inferred relationship | Some | ||
Mirror hands and feet co-occurrent with nasal defect (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Mirror hands and feet co-occurrent with nasal defect (disorder) | Is a | Congenital anomaly of nose | true | Inferred relationship | Some | ||
Mirror hands and feet co-occurrent with nasal defect (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Mirror hands and feet co-occurrent with nasal defect (disorder) | Finding site | Nasal structure | true | Inferred relationship | Some | 3 | |
Mirror hands and feet co-occurrent with nasal defect (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Mirror hands and feet co-occurrent with nasal defect (disorder) | Associated morphology | Abnormally fused structure (morphologic abnormality) | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)