Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3725586012 | Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3725587015 | HPPD (hypertelorism, preauricular sinus, punctual pits, deafness) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3725588013 | Hypertelorism, preauricular sinus, punctual pits, hearing loss syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | localisation d'une constatation (attribut) | Preauricular region structure | true | Inferred relationship | Some | 1 | |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | est un(e) (attribut) | Hypertelorism | true | Inferred relationship | Some | ||
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | est un(e) (attribut) | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | morphologie associée (attribut) | Preauricular sinus (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | est un(e) (attribut) | Preauricular fistula | true | Inferred relationship | Some | ||
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | localisation d'une constatation (attribut) | oreille | true | Inferred relationship | Some | 3 | |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | localisation d'une constatation (attribut) | structure de l'os sphénoïde (structure corporelle) | true | Inferred relationship | Some | 2 | |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | est un(e) (attribut) | affection de l'oreille | true | Inferred relationship | Some | ||
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 4 | |
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | est un(e) (attribut) | Congenital hearing disorder | true | Inferred relationship | Some | ||
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)