Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3324363016 | Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3324364010 | Hydrocephalus, cardiac malformation, dense bone syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3324365011 | Beemer Ertbruggen syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3324366012 | Beemer lethal malformation syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3324367015 | A lethal malformation syndrome reported in 2 brothers of first-cousin parents with characteristics of hydrocephalus, cardiac malformation, dense bones and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
1013461000241115 | syndrome léthal d'hydrocéphalie, malformation cardiaque, hyperdensité osseuse | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Is a | Congenital heart disease | true | Inferred relationship | Some | ||
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Is a | Congenital hydrocephalus | true | Inferred relationship | Some | ||
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 3 | |
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 3 | |
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Associated morphology | Congenital dilatation | false | Inferred relationship | Some | 4 | |
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Finding site | Brain cerebrospinal fluid pathway | false | Inferred relationship | Some | 4 | |
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 5 | |
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Finding site | Heart structure | false | Inferred relationship | Some | 5 | |
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Associated morphology | Congenital dilatation | false | Inferred relationship | Some | 3 | |
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Finding site | Brain cerebrospinal fluid pathway | true | Inferred relationship | Some | 3 | |
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Finding site | Heart structure | true | Inferred relationship | Some | 2 | |
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Associated morphology | Dilatation | true | Inferred relationship | Some | 3 | |
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets