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 |
3320722017 | Acrofacial dysostosis Kennedy Teebi type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3320723010 | Acrofacial dysostosis Kennedy Teebi type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3320724016 | Kennedy Teebi syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402328015 | A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Acrofacial dysostosis Kennedy Teebi type (disorder) | Finding site | Bone structure of face | true | Inferred relationship | Some | 2 | |
Acrofacial dysostosis Kennedy Teebi type (disorder) | Finding site | Bone structure of extremity | false | Inferred relationship | Some | 3 | |
Acrofacial dysostosis Kennedy Teebi type (disorder) | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Acrofacial dysostosis Kennedy Teebi type (disorder) | Is a | Congenital anomaly of face bones | true | Inferred relationship | Some | ||
Acrofacial dysostosis Kennedy Teebi type (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Acrofacial dysostosis Kennedy Teebi type (disorder) | Is a | Dysostosis | true | Inferred relationship | Some | ||
Acrofacial dysostosis Kennedy Teebi type (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Acrofacial dysostosis Kennedy Teebi type (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Acrofacial dysostosis Kennedy Teebi type (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
Acrofacial dysostosis Kennedy Teebi type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Acrofacial dysostosis Kennedy Teebi type (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
Acrofacial dysostosis Kennedy Teebi type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Acrofacial dysostosis Kennedy Teebi type (disorder) | Is a | Lesion of face | true | Inferred relationship | Some | ||
Acrofacial dysostosis Kennedy Teebi type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Acrofacial dysostosis Kennedy Teebi type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Acrofacial dysostosis Kennedy Teebi type (disorder) | Finding site | Bone structure of extremity | true | Inferred relationship | Some | 1 | |
Acrofacial dysostosis Kennedy Teebi type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Acrofacial dysostosis Kennedy Teebi type (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
Acrofacial dysostosis Kennedy Teebi type (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Acrofacial dysostosis Kennedy Teebi type (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Acrofacial dysostosis Kennedy Teebi type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Acrofacial dysostosis Kennedy Teebi type (disorder) | Is a | Congenital dysplasia of limb (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)