Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3451906015 | Cataract, congenital heart disease, neural tube defect syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3451907012 | Cataract, congenital heart disease, neural tube defect syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3451908019 | A multiple congenital anomaly syndrome with characteristics of sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures and joint limitation are also reported. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Cataract, congenital heart disease, neural tube defect syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 3 | |
Cataract, congenital heart disease, neural tube defect syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Cataract, congenital heart disease, neural tube defect syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Cataract, congenital heart disease, neural tube defect syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Cataract, congenital heart disease, neural tube defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Cataract, congenital heart disease, neural tube defect syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Cataract, congenital heart disease, neural tube defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Cataract, congenital heart disease, neural tube defect syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Cataract, congenital heart disease, neural tube defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Cataract, congenital heart disease, neural tube defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Cataract, congenital heart disease, neural tube defect syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
Cataract, congenital heart disease, neural tube defect syndrome | Finding site | Structure of lens of eye | true | Inferred relationship | Some | 4 | |
Cataract, congenital heart disease, neural tube defect syndrome | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
Cataract, congenital heart disease, neural tube defect syndrome | Finding site | Structure of heart | true | Inferred relationship | Some | 3 | |
Cataract, congenital heart disease, neural tube defect syndrome | Finding site | Neural tube structure | true | Inferred relationship | Some | 2 | |
Cataract, congenital heart disease, neural tube defect syndrome | Associated morphology | Cataract | false | Inferred relationship | Some | 4 | |
Cataract, congenital heart disease, neural tube defect syndrome | Associated morphology | Abnormally opaque structure | true | Inferred relationship | Some | 4 | |
Cataract, congenital heart disease, neural tube defect syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Cataract, congenital heart disease, neural tube defect syndrome | Is a | Congenital heart disease | true | Inferred relationship | Some | ||
Cataract, congenital heart disease, neural tube defect syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Cataract, congenital heart disease, neural tube defect syndrome | Is a | Congenital cataract | true | Inferred relationship | Some | ||
Cataract, congenital heart disease, neural tube defect syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Cataract, congenital heart disease, neural tube defect syndrome | Is a | Neural tube defect | true | Inferred relationship | Some | ||
Cataract, congenital heart disease, neural tube defect syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Cataract, congenital heart disease, neural tube defect syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Cataract, congenital heart disease, neural tube defect syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Cataract, congenital heart disease, neural tube defect syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 5 | |
Cataract, congenital heart disease, neural tube defect syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Cataract, congenital heart disease, neural tube defect syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 6 | |
Cataract, congenital heart disease, neural tube defect syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Cataract, congenital heart disease, neural tube defect syndrome | Associated morphology | Congenital cataract | false | Inferred relationship | Some | 7 | |
Cataract, congenital heart disease, neural tube defect syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Cataract, congenital heart disease, neural tube defect syndrome | Finding site | Structure of lens of eye | false | Inferred relationship | Some | 7 | |
Cataract, congenital heart disease, neural tube defect syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 8 | |
Cataract, congenital heart disease, neural tube defect syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
Cataract, congenital heart disease, neural tube defect syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 9 | |
Cataract, congenital heart disease, neural tube defect syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Cataract, congenital heart disease, neural tube defect syndrome | Finding site | Neural tube structure | false | Inferred relationship | Some | 8 | |
Cataract, congenital heart disease, neural tube defect syndrome | Finding site | Structure of nervous system | false | Inferred relationship | Some | 5 | |
Cataract, congenital heart disease, neural tube defect syndrome | Finding site | Face structure | false | Inferred relationship | Some | 6 | |
Cataract, congenital heart disease, neural tube defect syndrome | Finding site | Structure of heart | false | Inferred relationship | Some | 9 |
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