FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]
Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2009. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 2789776013 | Fibroblast growth factor receptor 3-related craniosynostosis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 2792566012 | Fibroblast growth factor receptor 3-related craniosynostosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 2794177011 | Fibroblast growth factor receptor 3 (FGFR3) related craniosynostosis | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 7518751000241118 | craniosténose de Muenke (FGFR3) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Fibroblast growth factor receptor 3-related craniosynostosis (disorder) | Is a | Craniosynostosis syndrome | true | Inferred relationship | Some | ||
| Fibroblast growth factor receptor 3-related craniosynostosis (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Fibroblast growth factor receptor 3-related craniosynostosis (disorder) | Associated morphology | Congenital premature fusion | false | Inferred relationship | Some | 1 | |
| Fibroblast growth factor receptor 3-related craniosynostosis (disorder) | Finding site | Structure of coronal suture of skull | false | Inferred relationship | Some | 1 | |
| Fibroblast growth factor receptor 3-related craniosynostosis (disorder) | Finding site | Structure of coronal suture of skull | false | Inferred relationship | Some | 1 | |
| Fibroblast growth factor receptor 3-related craniosynostosis (disorder) | Associated morphology | Congenital premature fusion | false | Inferred relationship | Some | 1 | |
| Fibroblast growth factor receptor 3-related craniosynostosis (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Fibroblast growth factor receptor 3-related craniosynostosis (disorder) | Is a | Congenital anomaly of bone and joint | false | Inferred relationship | Some | ||
| Fibroblast growth factor receptor 3-related craniosynostosis (disorder) | Is a | Cranial suture finding | false | Inferred relationship | Some | ||
| Fibroblast growth factor receptor 3-related craniosynostosis (disorder) | Is a | Disorder of skull (disorder) | false | Inferred relationship | Some | ||
| Fibroblast growth factor receptor 3-related craniosynostosis (disorder) | Is a | Disorder of bone development (disorder) | false | Inferred relationship | Some | ||
| Fibroblast growth factor receptor 3-related craniosynostosis (disorder) | Associated morphology | Congenital premature fusion | false | Inferred relationship | Some | 2 | |
| Fibroblast growth factor receptor 3-related craniosynostosis (disorder) | Finding site | Joint structure of suture of skull | false | Inferred relationship | Some | 2 | |
| Fibroblast growth factor receptor 3-related craniosynostosis (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Fibroblast growth factor receptor 3-related craniosynostosis (disorder) | Is a | Congenital anomaly of skull | false | Inferred relationship | Some | ||
| Fibroblast growth factor receptor 3-related craniosynostosis (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Fibroblast growth factor receptor 3-related craniosynostosis (disorder) | Finding site | Joint structure of suture of skull | true | Inferred relationship | Some | 1 | |
| Fibroblast growth factor receptor 3-related craniosynostosis (disorder) | Associated morphology | Premature fusion | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. | Is a | True | Fibroblast growth factor receptor 3-related craniosynostosis (disorder) | Inferred relationship | Some | |
| A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance. | Is a | True | Fibroblast growth factor receptor 3-related craniosynostosis (disorder) | Inferred relationship | Some |
This concept is not in any reference sets