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 |
| 3330392018 | Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3330393011 | Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5402791019 | Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom 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 a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402792014 | Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom 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 a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Is a | Congenital heart disease | true | Inferred relationship | Some | ||
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Is a | Craniosynostosis syndrome | true | Inferred relationship | Some | ||
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Is a | Colitis | true | Inferred relationship | Some | ||
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Is a | Congenital hypothyroidism | true | Inferred relationship | Some | ||
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Is a | Developmental delay | true | Inferred relationship | Some | ||
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Finding site | Bone structure of cranium | false | Inferred relationship | Some | ||
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Has definitional manifestation | Obesity (disorder) | false | Inferred relationship | Some | ||
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Finding site | Thyroid structure | false | Inferred relationship | Some | 7 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Associated morphology | Inflammation | false | Inferred relationship | Some | 8 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Finding site | Colon structure | false | Inferred relationship | Some | 8 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Associated morphology | Congenital hypertrophy | false | Inferred relationship | Some | 9 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Finding site | Heart structure | false | Inferred relationship | Some | 9 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Associated morphology | Congenital premature fusion | false | Inferred relationship | Some | 6 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Finding site | Joint structure of suture of skull | false | Inferred relationship | Some | 6 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Is a | Obesity (disorder) | true | Inferred relationship | Some | ||
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Interprets | Body weight measure | true | Inferred relationship | Some | 5 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Finding site | Heart structure | true | Inferred relationship | Some | 3 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Is a | Congenital anomaly of large intestine | true | Inferred relationship | Some | ||
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Finding site | Thyroid structure | true | Inferred relationship | Some | 4 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Associated morphology | Inflammation | false | Inferred relationship | Some | 1 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Finding site | Joint structure of suture of skull | true | Inferred relationship | Some | 2 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Associated morphology | Congenital premature fusion | false | Inferred relationship | Some | 2 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Finding site | Colon structure | true | Inferred relationship | Some | 1 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Associated morphology | Hypertrophy | true | Inferred relationship | Some | 3 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Associated morphology | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 5 | |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) | Associated morphology | Premature fusion | 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)
FHIR