Status: current, 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 |
5408778013 | Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5408779017 | Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterised by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3775317012 | Muenke syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3775318019 | Muenke syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5927441000241111 | syndrome de Muenke | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5927451000241114 | fermeture prématurée de la suture coronale du crâne | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3386891001000119 | Muenke-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
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 | Autosomal dominant hereditary disorder (disorder) | true | Inferred relationship | Some | ||
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 | Fibroblast growth factor receptor 3-related craniosynostosis (disorder) | true | Inferred relationship | Some | ||
Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. | Finding site | Structure of coronal suture of skull | true | Inferred relationship | Some | 1 | |
Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. | Associated morphology | Congenital premature fusion | false | Inferred relationship | Some | 1 | |
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 | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
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 | Congenital anomaly of bone and joint | false | Inferred relationship | Some | ||
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 | Congenital anomaly of skull | false | Inferred relationship | Some | ||
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 | Developmental hereditary disorder | true | Inferred relationship | Some | ||
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 | Finding of head region | false | Inferred relationship | Some | ||
Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. | Associated morphology | Premature fusion | true | Inferred relationship | Some | 1 | |
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 | Congenital synostosis of coronal suture of skull | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
Description inactivation indicator reference set