Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4575298010 | X-linked intellectual disability hypotonic face syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4575299019 | X-linked intellectual disability hypotonic face syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4575308015 | Carpenter Waziri syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4575311019 | Holmes Gang syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4575312014 | Smith Fineman Myers syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked intellectual disability hypotonic face syndrome | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked intellectual disability hypotonic face syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| X-linked intellectual disability hypotonic face syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability hypotonic face syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability hypotonic face syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability hypotonic face syndrome | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability hypotonic face syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| X-linked intellectual disability hypotonic face syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability hypotonic face syndrome | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked intellectual disability hypotonic face syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability hypotonic face syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability hypotonic face syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability hypotonic face syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR