Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
1820731000168112 | Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | en | Synonym | Active | Initial character case insensitive | SNOMED Clinical Terms Australian extension |
3322158013 | Capra DeMarco syndrome (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
3322159017 | Capra DeMarco syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3322160010 | Familial scaphocephaly with radioulnar synostosis syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3322161014 | Berant syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3322162019 | Craniosynostosis, hydrocephalus, Arnold Chiari I malformation, radioulnar synostosis | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3322163012 | Syndrome with characteristics of sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. The syndrome was described in two brothers from a non-consanguineous family. No causative mutation has been identified so far. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Finding site | Bone structure of radius and/or ulna | false | Inferred relationship | Some | 1 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Associated morphology | Congenital abnormal fusion | true | Inferred relationship | Some | 1 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Associated morphology | Congenital dilatation | false | Inferred relationship | Some | 2 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Finding site | Brain CSF pathway | true | Inferred relationship | Some | 2 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Associated morphology | Congenital protrusion | false | Inferred relationship | Some | 3 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Associated morphology | Congenital premature fusion | true | Inferred relationship | Some | 4 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Finding site | Brain tissue structure | false | Inferred relationship | Some | 3 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Finding site | Structure of sagittal suture of skull | true | Inferred relationship | Some | 4 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Associated morphology | Dilatation | true | Inferred relationship | Some | 2 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Finding site | Cerebellar structure | true | Inferred relationship | Some | 3 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Associated morphology | Hernia | true | Inferred relationship | Some | 3 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Finding site | Bone structure of ulna | true | Inferred relationship | Some | 1 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Associated morphology | Congenital abnormal fusion | true | Inferred relationship | Some | 5 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Finding site | Bone structure of radius | true | Inferred relationship | Some | 5 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Is a | Genetic disease | true | Inferred relationship | Some | ||
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Is a | Radioulnar synostosis | true | Inferred relationship | Some | ||
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Is a | Congenital hydrocephalus | true | Inferred relationship | Some | ||
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Is a | Congenital anomaly of skull | false | Inferred relationship | Some | ||
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Is a | Craniosynostosis syndrome | true | Inferred relationship | Some | ||
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Is a | Congenital anomaly of bone and joint | true | Inferred relationship | Some | ||
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Is a | Chiari malformation type I | true | Inferred relationship | Some | ||
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Associated morphology | Congenital dilatation | false | Inferred relationship | Some | 5 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Finding site | Brain CSF pathway | false | Inferred relationship | Some | 5 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 8 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Finding site | Bone structure of radius and/or ulna | false | Inferred relationship | Some | 8 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Associated morphology | Congenital premature fusion | false | Inferred relationship | Some | 7 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Finding site | Structure of sagittal suture of skull | false | Inferred relationship | Some | 7 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Associated morphology | Congenital protrusion | false | Inferred relationship | Some | 6 | |
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Finding site | Brain tissue structure | false | Inferred relationship | Some | 6 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set