Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3725559012 | A rare potentially life-threatening genetic endocrine disease characterised by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia (for example impaired gastrointestinal motility, abnormal cardiac rhythm, thermal dysregulation), hypothalamic dysfunction and neurobehavioural disorders. Central hypothyroidism, endocrine anomalies (for example glucocorticoid deficiency, puberty dysregulation), electrolyte imbalances (for example hypo/hypernatraemia, hypochloraemia), respiratory failure and late-onset neuroendocrine tumours may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3725562010 | A rare potentially life-threatening genetic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia (for example impaired gastrointestinal motility, abnormal cardiac rhythm, thermal dysregulation), hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies (for example glucocorticoid deficiency, puberty dysregulation), electrolyte imbalances (for example hypo/hypernatremia, hypochloremia), respiratory failure and late-onset neuroendocrine tumors may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3725560019 | ROHHADNET (rapid-onset childhood obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation, neural tumours) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3725561015 | Rapid-onset childhood obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3725563017 | Rapid-onset childhood obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3725564011 | ROHHAD (rapid-onset childhood obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3725565012 | ROHHADNET (rapid-onset childhood obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation, neural tumors) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare potentially life-threatening genetic endocrine disease characterised by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia (for example impaired gastrointestinal motility, abnormal cardiac rhythm, thermal dysregulation), hypothalamic dysfunction and neurobehavioural disorders. Central hypothyroidism, endocrine anomalies (for example glucocorticoid deficiency, puberty dysregulation), electrolyte imbalances (for example hypo/hypernatraemia, hypochloraemia), respiratory failure and late-onset neuroendocrine tumours may also be associated. | Is a | Hypothalamic syndrome | true | Inferred relationship | Some | ||
| A rare potentially life-threatening genetic endocrine disease characterised by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia (for example impaired gastrointestinal motility, abnormal cardiac rhythm, thermal dysregulation), hypothalamic dysfunction and neurobehavioural disorders. Central hypothyroidism, endocrine anomalies (for example glucocorticoid deficiency, puberty dysregulation), electrolyte imbalances (for example hypo/hypernatraemia, hypochloraemia), respiratory failure and late-onset neuroendocrine tumours may also be associated. | Finding site | Hypothalamic structure | true | Inferred relationship | Some | 2 | |
| A rare potentially life-threatening genetic endocrine disease characterised by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia (for example impaired gastrointestinal motility, abnormal cardiac rhythm, thermal dysregulation), hypothalamic dysfunction and neurobehavioural disorders. Central hypothyroidism, endocrine anomalies (for example glucocorticoid deficiency, puberty dysregulation), electrolyte imbalances (for example hypo/hypernatraemia, hypochloraemia), respiratory failure and late-onset neuroendocrine tumours may also be associated. | Is a | Body mass index at or above 95th percentile as compared to children of the same age and sex | true | Inferred relationship | Some | ||
| A rare potentially life-threatening genetic endocrine disease characterised by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia (for example impaired gastrointestinal motility, abnormal cardiac rhythm, thermal dysregulation), hypothalamic dysfunction and neurobehavioural disorders. Central hypothyroidism, endocrine anomalies (for example glucocorticoid deficiency, puberty dysregulation), electrolyte imbalances (for example hypo/hypernatraemia, hypochloraemia), respiratory failure and late-onset neuroendocrine tumours may also be associated. | Occurrence | Childhood | true | Inferred relationship | Some | 1 | |
| A rare potentially life-threatening genetic endocrine disease characterised by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia (for example impaired gastrointestinal motility, abnormal cardiac rhythm, thermal dysregulation), hypothalamic dysfunction and neurobehavioural disorders. Central hypothyroidism, endocrine anomalies (for example glucocorticoid deficiency, puberty dysregulation), electrolyte imbalances (for example hypo/hypernatraemia, hypochloraemia), respiratory failure and late-onset neuroendocrine tumours may also be associated. | Interprets | Body weight measure | true | Inferred relationship | Some | 3 | |
| A rare potentially life-threatening genetic endocrine disease characterised by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia (for example impaired gastrointestinal motility, abnormal cardiac rhythm, thermal dysregulation), hypothalamic dysfunction and neurobehavioural disorders. Central hypothyroidism, endocrine anomalies (for example glucocorticoid deficiency, puberty dysregulation), electrolyte imbalances (for example hypo/hypernatraemia, hypochloraemia), respiratory failure and late-onset neuroendocrine tumours may also be associated. | Occurrence | Childhood | true | Inferred relationship | Some | 2 | |
| A rare potentially life-threatening genetic endocrine disease characterised by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia (for example impaired gastrointestinal motility, abnormal cardiac rhythm, thermal dysregulation), hypothalamic dysfunction and neurobehavioural disorders. Central hypothyroidism, endocrine anomalies (for example glucocorticoid deficiency, puberty dysregulation), electrolyte imbalances (for example hypo/hypernatraemia, hypochloraemia), respiratory failure and late-onset neuroendocrine tumours may also be associated. | Finding site | Structure of endocrine system (body structure) | true | Inferred relationship | Some | 1 | |
| A rare potentially life-threatening genetic endocrine disease characterised by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia (for example impaired gastrointestinal motility, abnormal cardiac rhythm, thermal dysregulation), hypothalamic dysfunction and neurobehavioural disorders. Central hypothyroidism, endocrine anomalies (for example glucocorticoid deficiency, puberty dysregulation), electrolyte imbalances (for example hypo/hypernatraemia, hypochloraemia), respiratory failure and late-onset neuroendocrine tumours may also be associated. | Has interpretation | Above reference range (qualifier value) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR