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 |
| 3726000019 | Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3726002010 | Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3726003017 | Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 771951000241117 | hypercholestérolémie due au déficit en cholesterol 7alpha-hydroxylase (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 968371000172113 | hypercholestérolémie due au déficit en cholesterol 7alpha-hydroxylase | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3725999016 | A rare genetic sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3726001015 | A rare genetic sterol metabolism disorder characterised by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridaemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | localisation d'une constatation (attribut) | foie | true | Inferred relationship | Some | 2 | |
| Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | a pour interprétation (attribut) | au-dessus de l'étendue de référence | true | Inferred relationship | Some | 1 | |
| Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | est un(e) (attribut) | défaut de synthèse des acides biliaires | true | Inferred relationship | Some | ||
| Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | interprète (attribut) | Serum total cholesterol measurement (procedure) | true | Inferred relationship | Some | 1 | |
| Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | est un(e) (attribut) | hypercholestérolémie | true | Inferred relationship | Some | ||
| Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR