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 |
| 13242591000146113 | syndroom van cheilopalatoschisis, craniofaciale dysmorfie, congenitale hartafwijking en gehoorverlies | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13242601000146115 | syndroom van cheilopalatoschisis, craniofaciale dysmorfie, congenitale hartafwijking en gehoorverlies (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13242611000146118 | hyaluronidase-2-deficiëntie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13308331000146116 | syndroom van gespleten gehemelte en lip, craniofaciale dysmorfie, congenitale hartafwijking en gehoorverlies | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13308341000146112 | syndroom van gespleten verhemelte en lip, craniofaciale dysmorfie, aangeboren hartafwijking en gehoorverlies | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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) | 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 (disorder) | Is a | Cleft palate with cleft lip | true | Inferred relationship | Some | ||
| Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) | Finding site | Lip structure | true | Inferred relationship | Some | 1 | |
| Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) | Associated morphology | 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) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) | Finding site | Palatal structure | true | Inferred relationship | Some | 2 | |
| Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) | Associated morphology | 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 |
This concept is not in any reference sets
FHIR