Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3429808015 | Paternal 20q13.2q13.3 microdeletion syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3429809011 | Paternal 20q13.2q13.3 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3429810018 | Paternal monosomy 20q13.2q13.3 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3429811019 | Syndrome with characteristics of severe pre and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism. It has been reported in 2 unrelated patients. Facial dysmorphism includes high forehead, broad nasal bridge, thin upper lip, small chin and malformed ears. In addition, the patients presented with skin, iris and hair hypopigmentation and abnormal adipose tissue distribution. The syndrome is caused by an interstitial deletion of paternal origin at 20q13.2q13.3. In the 2 cases, the deletion was approximately 4.5Mb in size and encompassed the GNAS imprinted locus; the loss of the paternally expressed GNAS gene might account for the severe pre and post-natal retardation and intractable feeding difficulties observed in the patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 876971000172110 | syndrome de microdélétion 20q13.2q13.3 paternelle | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 989221000172111 | del(20)(q13.2q13.3) paternelle | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 885471000172116 | paternale 20q13.2q13.3 microdeletiesyndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 986381000172114 | paternale 20q13.2-q13.3 microdeletiesyndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Paternal 20q13.2q13.3 microdeletion syndrome (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Paternal 20q13.2q13.3 microdeletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Paternal 20q13.2q13.3 microdeletion syndrome (disorder) | Finding site | Chromosome pair 20 | false | Inferred relationship | Some | 2 | |
| Paternal 20q13.2q13.3 microdeletion syndrome (disorder) | Associated morphology | Deletion of long arm | false | Inferred relationship | Some | 3 | |
| Paternal 20q13.2q13.3 microdeletion syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Paternal 20q13.2q13.3 microdeletion syndrome (disorder) | Finding site | Chromosome pair 20 | false | Inferred relationship | Some | 3 | |
| Paternal 20q13.2q13.3 microdeletion syndrome (disorder) | Is a | Deletion of part of long arm of chromosome 20 (disorder) | true | Inferred relationship | Some | ||
| Paternal 20q13.2q13.3 microdeletion syndrome (disorder) | Finding site | Chromosome pair 20 | true | Inferred relationship | Some | 1 | |
| Paternal 20q13.2q13.3 microdeletion syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Paternal 20q13.2q13.3 microdeletion syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Paternal 20q13.2q13.3 microdeletion syndrome (disorder) | Finding site | Long arm of chromosome | true | Inferred relationship | Some | 2 | |
| Paternal 20q13.2q13.3 microdeletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Paternal 20q13.2q13.3 microdeletion syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Paternal 20q13.2q13.3 microdeletion syndrome (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR