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 |
| 3323481014 | Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323482019 | Diaphragmatic defect, limb deficiency, skull defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323483012 | Froster Huch syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 932311000172111 | syndrome de Froster-Huch | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 963101000172112 | syndrome d'hernie diaphragmatique-anomalies des membres | 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 |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Is a | Congenital hypoplasia of lung | true | Inferred relationship | Some | ||
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Is a | Congenital hernia of foramen of Bochdalek | false | Inferred relationship | Some | ||
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Associated morphology | Defect | false | Inferred relationship | Some | 8 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Finding site | Diaphragm structure | false | Inferred relationship | Some | 8 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Associated morphology | Herniated structure (morphologic abnormality) | false | Inferred relationship | Some | 9 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Finding site | Structure of abdominopelvic viscus | false | Inferred relationship | Some | 9 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Finding site | Diaphragm structure | false | Inferred relationship | Some | 5 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Associated morphology | Hernial opening (morphologic abnormality) | false | Inferred relationship | Some | 6 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Finding site | Structure of foramen of Bochdalek | false | Inferred relationship | Some | 6 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Associated morphology | Hypoplasia | false | Inferred relationship | Some | 7 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Finding site | Lung structure | false | Inferred relationship | Some | 7 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 5 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Associated morphology | Herniated structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Finding site | Structure of abdominopelvic viscus | false | Inferred relationship | Some | 2 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Is a | défaut de diaphragme | false | Inferred relationship | Some | ||
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Associated morphology | Hernial opening (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Finding site | Structure of foramen of Bochdalek | true | Inferred relationship | Some | 1 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Finding site | Diaphragm structure | false | Inferred relationship | Some | 4 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Associated morphology | Defect | false | Inferred relationship | Some | 4 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 3 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Finding site | Lung structure | true | Inferred relationship | Some | 3 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Is a | Congenital posterolateral diaphragmatic hernia (disorder) | true | Inferred relationship | Some | ||
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Finding site | Structure of organ within abdominopelvic cavity (body structure) | false | Inferred relationship | Some | 2 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Finding site | Abdomen | false | Inferred relationship | Some | 2 | |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) | Finding site | Intra-abdominopelvic structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR