Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3451907012 | Cataract, congenital heart disease, neural tube defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
762311000241116 | syndrome de cataracte-cardiopathie congénitale-défaut de fermeture du tube neural (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
892031000172117 | syndrome de cataracte-cardiopathie congénitale-défaut de fermeture du tube neural | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | true | Inferred relationship | Some | 4 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 1 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | localisation d'une constatation (attribut) | cœur | true | Inferred relationship | Some | 3 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | localisation d'une constatation (attribut) | Neural tube structure | true | Inferred relationship | Some | 2 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | morphologie associée (attribut) | Cataract | false | Inferred relationship | Some | 4 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | morphologie associée (attribut) | opacité | true | Inferred relationship | Some | 4 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | est un(e) (attribut) | maladie cardiaque congénitale | true | Inferred relationship | Some | ||
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | est un(e) (attribut) | Congenital cataract | true | Inferred relationship | Some | ||
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | est un(e) (attribut) | anomalie du tube neural | true | Inferred relationship | Some | ||
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 5 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 6 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | morphologie associée (attribut) | Congenital cataract | false | Inferred relationship | Some | 7 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 7 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 8 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 8 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 9 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 9 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | localisation d'une constatation (attribut) | Neural tube structure | false | Inferred relationship | Some | 8 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | localisation d'une constatation (attribut) | système nerveux | false | Inferred relationship | Some | 5 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | localisation d'une constatation (attribut) | face | false | Inferred relationship | Some | 6 | |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) | localisation d'une constatation (attribut) | cœur | false | Inferred relationship | Some | 9 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)