Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
4669014014 | Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
4669015010 | Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, deafness syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
4669016011 | Hyaluronidase 2 deficiency | en | Synonym | Active | Case insensitive | 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome | Is a | 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 | Is a | Cleft palate with cleft lip | true | Inferred relationship | Some | ||
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome | Is a | Genetic disease | true | Inferred relationship | Some | ||
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome | Finding site | Lip structure | true | Inferred relationship | Some | 1 | |
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome | Associated morphology | Developmental failure of fusion | true | Inferred relationship | Some | 1 | |
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome | Finding site | Palatal structure | true | Inferred relationship | Some | 2 | |
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome | Associated morphology | Developmental failure of fusion | true | Inferred relationship | Some | 2 | |
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set