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 |
| 7887541000146110 | paternaal 20q13.2q13.3-microdeletiesyndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8716311000146111 | syndroom van paternale 20q13.2q13.3-microdeletie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8717141000146113 | syndroom van paternale 20q13.2q13.3-microdeletie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8788691000146110 | syndroom van microdeletie van chromosoom 20 (20q13.2q13.3) bij vader | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8915251000146116 | syndroom van microdeletie van chromosoom 20 (20q13.2q13.3-) bij vader | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 |
| 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