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 |
| 3452288011 | Chromosome Xp22.3 microdeletion syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3452289015 | Chromosome Xp22.3 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3452290012 | Xp22.3 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3452291011 | A microdeletion syndrome resulting from a partial deletion of the chromosome X. The phenotype is highly variable (depending on length of deletion), but main manifestations include X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Chromosome Xp22.3 microdeletion syndrome (disorder) | Is a | Anomaly of chromosome X | true | Inferred relationship | Some | ||
| Chromosome Xp22.3 microdeletion syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Chromosome Xp22.3 microdeletion syndrome (disorder) | Is a | Deletion of part of autosome | false | Inferred relationship | Some | ||
| Chromosome Xp22.3 microdeletion syndrome (disorder) | Associated morphology | Deletion of short arm | false | Inferred relationship | Some | 2 | |
| Chromosome Xp22.3 microdeletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Chromosome Xp22.3 microdeletion syndrome (disorder) | Finding site | Sex chromosome X | true | Inferred relationship | Some | 2 | |
| Chromosome Xp22.3 microdeletion syndrome (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| Chromosome Xp22.3 microdeletion syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Chromosome Xp22.3 microdeletion syndrome (disorder) | Finding site | Sex chromosome X | false | Inferred relationship | Some | 3 | |
| Chromosome Xp22.3 microdeletion syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Chromosome Xp22.3 microdeletion syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Chromosome Xp22.3 microdeletion syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Chromosome Xp22.3 microdeletion syndrome (disorder) | Is a | Developmental hereditary disorder | false | Inferred relationship | Some | ||
| Chromosome Xp22.3 microdeletion syndrome (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Chromosome Xp22.3 microdeletion syndrome (disorder) | Finding site | Short arm of chromosome | true | Inferred relationship | Some | 1 | |
| Chromosome Xp22.3 microdeletion syndrome (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Chromosome Xp22.3 microdeletion syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR