Status: current. Date: 31-Jan 2020
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3858288010 | Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3858289019 | Glycogen storage disease due to muscle phosphorylase kinase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3858290011 | Glycogen storage disease type 9D | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3858291010 | Glycogen storage disease type IXd | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3858292015 | Glycogenosis type 9D | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3858293013 | A very rare benign inborn error of glycogen metabolism with characteristic of exercise intolerance. The disease starts generally in adolescence or adulthood. Patients may present with exercise intolerance with myalgia, cramps, fatigue, and sometimes myoglobinuria. In some cases, patients may present with progressive muscle weakness. Phosphorylase kinase (PhK) is an enzyme which plays a key role in the regulation of glycogenolysis as it is required for glycogen phosphorylase activation. It consists of four copies of each four subunits (alpha, beta, gamma and calmodulin) encoded by different genes on different chromosomes and differentially expressed in various tissues. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408842012 | Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408843019 | Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterised by exercise intolerance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder) | Is a | X-linked recessive hereditary disease | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder) | Is a | Glycogen phosphorylase kinase deficiency | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder) | Occurrence | Congenital | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 1 | |
| Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder) | Finding site | Liver structure | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR