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 |
| 3330397012 | Obesity due to prohormone convertase I deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3330398019 | Obesity due to prohormone convertase I deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 758081000241119 | obésité par déficit en prohormone convertase I (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 968351000172118 | obésité par déficit en prohormone convertase I | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3330399010 | Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones. It has been described in two patients: a 43-year-old woman and a female infant. The disorder is caused by mutations in the gene encoding prohormone convertase-1 (PCSK1, 5q15-q21), an enzyme involved in the processing of POMC, and numerous prohormones including proinsulin. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3330400015 | Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterized by severe childhood obesity, hypoadrenalism, reactive hypoglycemia, and elevated circulating levels of certain prohormones. It has been described in two patients: a 43-year-old woman and a female infant. The disorder is caused by mutations in the gene encoding prohormone convertase-1 (PCSK1, 5q15-q21), an enzyme involved in the processing of POMC, and numerous prohormones including proinsulin. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Obesity due to prohormone convertase I deficiency (disorder) | a pour interprétation (attribut) | au-dessus de l'étendue de référence | true | Inferred relationship | Some | 1 | |
| Obesity due to prohormone convertase I deficiency (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Obesity due to prohormone convertase I deficiency (disorder) | est un(e) (attribut) | Obesity (disorder) | true | Inferred relationship | Some | ||
| Obesity due to prohormone convertase I deficiency (disorder) | est défini par la manifestation de (attribut) | Obese (finding) | false | Inferred relationship | Some | ||
| Obesity due to prohormone convertase I deficiency (disorder) | interprète (attribut) | mesure du poids corporel | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR