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 |
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 |
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 Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Is a | Congenital heart disease | true | Inferred relationship | Some | ||
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Is a | Congenital conductive hearing loss | true | Inferred relationship | Some | ||
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Interprets | entité observable fonctionnelle | false | Inferred relationship | Some | ||
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 4 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 1 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Has interpretation | Decreased | true | Inferred relationship | Some | 2 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Interprets | Hearing | true | Inferred relationship | Some | 2 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 3 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Finding site | Ear structure | true | Inferred relationship | Some | 1 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Finding site | Heart structure | true | Inferred relationship | Some | 4 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets