Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3305036012 | Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305037015 | Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305038013 | Thong Douglas Ferrante syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401251016 | A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401252011 | A rare developmental defect during embryogenesis malformation syndrome characterised by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | Is a | Multiple malformation syndrome, moderate short stature, facial | true | Inferred relationship | Some | ||
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | Is a | Heritable disorder of neutrophil function (disorder) | true | Inferred relationship | Some | ||
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 4 | |
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 2 | |
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | Interprets | Functional observable | false | Inferred relationship | Some | ||
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 5 | |
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 3 | |
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR