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 |
| 3331782019 | A rare bone disease with anomaly of both index fingers (accessory ossicle at the metacarpophalangeal joint with resulting ulnar deviation) and typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. In 80% of cases, the digital abnormality is associated with Pierre Robin sequence. Additional frequently reported congenital malformations include cardiac defects such as ventricular septal defect and interatrial communication. Homozygous and compound heterozygous mutations in TGDS (13q32.1) have been implicated as causal in this syndrome. Transmission is autosomal recessive. Genetic counseling is recommended. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3777380015 | A rare bone disease with anomaly of both index fingers (accessory ossicle at the metacarpophalangeal joint with resulting ulnar deviation) and typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. In 80% of cases, the digital abnormality is associated with Pierre Robin sequence. Additional frequently reported congenital malformations include cardiac defects such as ventricular septal defect and interatrial communication. Homozygous and compound heterozygous mutations in TGDS (13q32.1) have been implicated as causal in this syndrome. Transmission is autosomal recessive. Genetic counselling is recommended. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402905012 | Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402906013 | Catel-Manzke syndrome is a rare bone disease characterised by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3331772015 | Catel Manzke syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3331773013 | Catel Manzke syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3331776017 | Micrognathia digital syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331777014 | Palatodigital syndrome Catel-Manzke type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. | Is a | Congenital anomaly of finger | true | Inferred relationship | Some | ||
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. | Is a | Dysostosis | true | Inferred relationship | Some | ||
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. | Associated morphology | dysgenese | false | Inferred relationship | Some | 2 | |
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. | Finding site | Index finger structure | true | Inferred relationship | Some | 2 | |
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 3 | |
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. | Finding site | Bone structure | false | Inferred relationship | Some | 3 | |
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 1 | |
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR