Status: current, Primitive. 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 | Active | Case insensitive | SNOMED CT core |
3638378016 | Tyshchenko syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3638379012 | Facial dysmorphism, conductive hearing loss, heart defect syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3638380010 | Dysmorphism, conductive hearing loss, heart defect syndrome | en | Synonym | Active | Case insensitive | 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 3 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 4 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
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 | Functional observable | false | Inferred relationship | Some | ||
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 4 | |
Facial dysmorphism, conductive hearing loss, heart defect syndrome | Associated morphology | Developmental abnormality | 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 | Developmental abnormality | 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 | Structure of heart | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set