Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3788234014 | Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 2995037013 | Proximal 11p deletion syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2995170018 | Chromosome 11p11.2 deletion syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2995658018 | P11pDS - proximal 11p deletion syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2995935019 | Potocki-Shaffer syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 2995937010 | Chromosome 11p11.2 deletion syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Is a | 11p partial monosomy syndrome | true | Inferred relationship | Some | ||
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Associated morphology | Deletion of short arm | false | Inferred relationship | Some | 3 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Associated morphology | Monosomy | false | Inferred relationship | Some | 4 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Associated morphology | Nephroblastoma | false | Inferred relationship | Some | 5 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Finding site | Structure of parenchyma of kidney | false | Inferred relationship | Some | 5 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Associated morphology | Congenital absence | false | Inferred relationship | Some | 7 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Finding site | Iris structure | false | Inferred relationship | Some | 7 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Associated morphology | Cellular AND/OR subcellular abnormality | false | Inferred relationship | Some | 6 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Finding site | Chromosome pair 11 | false | Inferred relationship | Some | 6 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Finding site | Iris structure | false | Inferred relationship | Some | 1 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Associated morphology | Absence (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Is a | Congenital exostosis | true | Inferred relationship | Some | ||
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Associated morphology | External hyperostosis | true | Inferred relationship | Some | 3 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Associated morphology | Deletion of short arm | true | Inferred relationship | Some | 2 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Finding site | Chromosome pair 11 | true | Inferred relationship | Some | 1 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Finding site | Chromosome pair 11 | true | Inferred relationship | Some | 2 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Finding site | Bone structure | true | Inferred relationship | Some | 3 | |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). | Occurrence | Congenital | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
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