Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3725585011 | Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3725586012 | Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3725587015 | HPPD (hypertelorism, preauricular sinus, punctual pits, deafness) syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3725588013 | Hypertelorism, preauricular sinus, punctual pits, hearing loss syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3725589017 | A rare developmental defect during embryogenesis syndrome with characteristics of hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Finding site | Preauricular region structure | true | Inferred relationship | Some | 1 | |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Is a | Hypertelorism | true | Inferred relationship | Some | ||
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Associated morphology | Preauricular sinus | true | Inferred relationship | Some | 1 | |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Is a | Preauricular fistula | true | Inferred relationship | Some | ||
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Finding site | Ear structure | true | Inferred relationship | Some | 3 | |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Finding site | Sphenoid bone structure | true | Inferred relationship | Some | 2 | |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Is a | Disorder of ear | true | Inferred relationship | Some | ||
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Is a | Congenital hearing disorder | true | Inferred relationship | Some | ||
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set