Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3330392018 | Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3330393011 | Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3330394017 | Syndrome with characteristics of precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of who died within the first month of life. The parents of the two children were nonconsanguineous and in good health however the pregnancies were complicated by maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. | en | Definition | Active | Case sensitive | SNOMED CT core |
3777473016 | Syndrome with characteristics of precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of who died within the first month of life. The parents of the two children were nonconsanguineous and in good health however the pregnancies were complicated by maternal HELLP syndrome (Hemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Finding site | Structure of heart | true | Inferred relationship | Some | 3 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Is a | Congenital anomaly of large intestine | true | Inferred relationship | Some | ||
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Finding site | Thyroid structure | true | Inferred relationship | Some | 4 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Associated morphology | Inflammation | false | Inferred relationship | Some | 1 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Finding site | Joint structure of suture of skull | true | Inferred relationship | Some | 2 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Associated morphology | Congenital premature fusion | true | Inferred relationship | Some | 2 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Finding site | Colon structure | true | Inferred relationship | Some | 1 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Associated morphology | Hypertrophy | true | Inferred relationship | Some | 3 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Associated morphology | Inflammatory morphology | true | Inferred relationship | Some | 1 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Has interpretation | Above reference range | true | Inferred relationship | Some | 5 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Is a | Congenital heart disease | true | Inferred relationship | Some | ||
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Is a | Craniosynostosis syndrome | true | Inferred relationship | Some | ||
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Is a | Colitis | true | Inferred relationship | Some | ||
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Is a | Congenital hypothyroidism | true | Inferred relationship | Some | ||
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Is a | Developmental delay | true | Inferred relationship | Some | ||
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Finding site | Bone structure of cranium | false | Inferred relationship | Some | ||
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Has definitional manifestation | Obesity | false | Inferred relationship | Some | ||
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Finding site | Thyroid structure | false | Inferred relationship | Some | 7 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Associated morphology | Inflammation | false | Inferred relationship | Some | 8 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Finding site | Colon structure | false | Inferred relationship | Some | 8 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Associated morphology | Congenital hypertrophy | false | Inferred relationship | Some | 9 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Finding site | Structure of heart | false | Inferred relationship | Some | 9 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Associated morphology | Congenital premature fusion | false | Inferred relationship | Some | 6 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Finding site | Joint structure of suture of skull | false | Inferred relationship | Some | 6 | |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Is a | Obesity | true | Inferred relationship | Some | ||
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | Interprets | Body weight measure | true | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set