Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3305059018 | Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3305060011 | Growth delay with hydrocephalus and lung hypoplasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3305061010 | Game Friedman Paradice syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401263014 | Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 siblings so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401264015 | Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 siblings so far and characterised by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) | Is a | Developmental disorder | false | Inferred relationship | Some | ||
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) | Is a | Congenital hydrocephalus | true | Inferred relationship | Some | ||
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) | Is a | Congenital hypoplasia of lung | true | Inferred relationship | Some | ||
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 2 | |
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) | Finding site | Lung structure | true | Inferred relationship | Some | 2 | |
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) | Associated morphology | Congenital dilatation | false | Inferred relationship | Some | 3 | |
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) | Finding site | Brain cerebrospinal fluid pathway | false | Inferred relationship | Some | 3 | |
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) | Associated morphology | Congenital dilatation | false | Inferred relationship | Some | 1 | |
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) | Finding site | Brain cerebrospinal fluid pathway | true | Inferred relationship | Some | 1 | |
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) | Associated morphology | Dilatation | true | Inferred relationship | Some | 1 | |
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)