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 |
5402609015 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinical features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402610013 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinical features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
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 | Developmental anomaly | 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 | Defect of diaphragm | 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)