Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3323481014 | Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3323482019 | Diaphragmatic defect, limb deficiency, skull defect syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3323483012 | Froster Huch syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3323485017 | Syndrome with the association of classical diaphragmatic hernia (Bochdalek type), severe lung hypoplasia and variable associated malformations. It has been reported only once in four successive fetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case) and an ossification defect of the skull (one case). | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Associated morphology | Hernia | true | Inferred relationship | Some | 2 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Finding site | Structure of abdominopelvic viscus | false | Inferred relationship | Some | 2 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Is a | Defect of diaphragm | true | Inferred relationship | Some | ||
Diaphragmatic defect, limb deficiency, skull defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Associated morphology | Hernial opening | true | Inferred relationship | Some | 1 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Finding site | Structure of foramen of Bochdalek | true | Inferred relationship | Some | 1 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Finding site | Diaphragm structure | true | Inferred relationship | Some | 4 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Associated morphology | Defect | true | Inferred relationship | Some | 4 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 3 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Finding site | Lung structure | true | Inferred relationship | Some | 3 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Is a | Congenital posterolateral diaphragmatic hernia | true | Inferred relationship | Some | ||
Diaphragmatic defect, limb deficiency, skull defect syndrome | Finding site | Structure of organ within abdominopelvic cavity | false | Inferred relationship | Some | 2 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Diaphragmatic defect, limb deficiency, skull defect syndrome | Finding site | Structure of abdomen | false | Inferred relationship | Some | 2 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Finding site | Intra-abdominopelvic structure | true | Inferred relationship | Some | 2 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Is a | Congenital pulmonary hypoplasia | true | Inferred relationship | Some | ||
Diaphragmatic defect, limb deficiency, skull defect syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Diaphragmatic defect, limb deficiency, skull defect syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Diaphragmatic defect, limb deficiency, skull defect syndrome | Is a | Congenital hernia of foramen of Bochdalek | false | Inferred relationship | Some | ||
Diaphragmatic defect, limb deficiency, skull defect syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Diaphragmatic defect, limb deficiency, skull defect syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Associated morphology | Defect | false | Inferred relationship | Some | 8 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Finding site | Diaphragm structure | false | Inferred relationship | Some | 8 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Associated morphology | Hernia | false | Inferred relationship | Some | 9 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Finding site | Structure of abdominopelvic viscus | false | Inferred relationship | Some | 9 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Finding site | Diaphragm structure | false | Inferred relationship | Some | 5 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Associated morphology | Hernial opening | false | Inferred relationship | Some | 6 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Finding site | Structure of foramen of Bochdalek | false | Inferred relationship | Some | 6 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Associated morphology | Hypoplasia | false | Inferred relationship | Some | 7 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Finding site | Lung structure | false | Inferred relationship | Some | 7 | |
Diaphragmatic defect, limb deficiency, skull defect syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Respiratory finding reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set