Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4669013015 | Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4669014014 | Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4669015010 | Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4669016011 | Hyaluronidase 2 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4669023012 | A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability with characteristics of unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma) and conductive or sensorineural hearing loss. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) | est un(e) (attribut) | Cleft palate with cleft lip | true | Inferred relationship | Some | ||
| Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) | est un(e) (attribut) | Genetic disease | true | Inferred relationship | Some | ||
| Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) | localisation d'une constatation (attribut) | lèvre de la bouche (structure corporelle) | true | Inferred relationship | Some | 1 | |
| Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) | localisation d'une constatation (attribut) | Palatal structure | true | Inferred relationship | Some | 2 | |
| Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR