Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4011662011 | The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4011664012 | The more common type of Robinow syndrome characterised by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4011661016 | Autosomal dominant Robinow syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
4011663018 | Autosomal dominant Robinow syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5817311000241117 | dysostose acrale avec anomalies faciales et génitales autosomique dominante | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5817321000241112 | syndrome de Robinow autosomique dominant | 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 |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Is a | Autosomal dominant hereditary disorder (disorder) | true | Inferred relationship | Some | ||
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Is a | Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. | true | Inferred relationship | Some | ||
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Clinical course | Progressive | false | Inferred relationship | Some | 1 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Finding site | Skeletal system structure | false | Inferred relationship | Some | 2 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Finding site | Musculoskeletal structure of limb | false | Inferred relationship | Some | 3 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Associated morphology | Abnormally short growth (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 3 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Finding site | Bone structure of spine | false | Inferred relationship | Some | 4 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Associated morphology | Aplasia | false | Inferred relationship | Some | 4 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Finding site | Face structure | true | Inferred relationship | Some | 5 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 5 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Interprets | Height / growth measure | false | Inferred relationship | Some | 6 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Interprets | Limb length | true | Inferred relationship | Some | 6 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Has interpretation | Below reference range | true | Inferred relationship | Some | 6 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Finding site | Bone structure of limb | true | Inferred relationship | Some | 2 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Occurrence | Congenital | true | Inferred relationship | Some | 7 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Finding site | External genitalia structure | true | Inferred relationship | Some | 7 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 7 | |
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 7 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets