Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
1013361000241112 | syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3638377014 | Facial dysmorphism, conductive hearing loss, heart defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3638378016 | Tyshchenko syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3638379012 | Facial dysmorphism, conductive hearing loss, heart defect syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3638380010 | Dysmorphism, conductive hearing loss, heart defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3638381014 | A rare multiple congenital anomalies syndrome with characteristics of distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid's bow upper lip vermilion and small, low-set, posteriorly rotated ears), cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 4 | |
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | est un(e) (attribut) | maladie cardiaque congénitale | true | Inferred relationship | Some | ||
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | est un(e) (attribut) | Congenital conductive hearing loss | true | Inferred relationship | Some | ||
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | interprète (attribut) | entité observable fonctionnelle | false | Inferred relationship | Some | ||
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 4 | |
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 1 | |
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | a pour interprétation (attribut) | Decreased | true | Inferred relationship | Some | 2 | |
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 2 | |
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 3 | |
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | localisation d'une constatation (attribut) | oreille | true | Inferred relationship | Some | 1 | |
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque | localisation d'une constatation (attribut) | cœur | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)