Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 437741015 | Glycogen phosphorylase kinase deficiency, autosomal recessive | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 692563010 | Glycogen phosphorylase kinase deficiency, autosomal recessive (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Glycogen phosphorylase kinase deficiency, autosomal recessive | Is a | Glycogen storage disease type IX | true | Inferred relationship | Existential restriction modifier | ||
| Glycogen phosphorylase kinase deficiency, autosomal recessive | Finding site | Skeletal muscle structure | false | Inferred relationship | Existential restriction modifier | ||
| Glycogen phosphorylase kinase deficiency, autosomal recessive | Finding site | Liver structure | false | Inferred relationship | Existential restriction modifier | ||
| Glycogen phosphorylase kinase deficiency, autosomal recessive | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | ||
| Glycogen phosphorylase kinase deficiency, autosomal recessive | Finding site | Body system structure | false | Inferred relationship | Existential restriction modifier | ||
| Glycogen phosphorylase kinase deficiency, autosomal recessive | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Glycogen phosphorylase kinase deficiency, autosomal recessive | Finding site | Liver structure | true | Inferred relationship | Existential restriction modifier | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Cardiac glycogen phosphorylase kinase deficiency | Is a | True | Glycogen phosphorylase kinase deficiency, autosomal recessive | Inferred relationship | Existential restriction modifier | |
| Hepatic and muscle glycogen phosphorylase kinase deficiency | Is a | True | Glycogen phosphorylase kinase deficiency, autosomal recessive | Inferred relationship | Existential restriction modifier | |
| Hepatic glycogen phosphorylase kinase deficiency | Is a | True | Glycogen phosphorylase kinase deficiency, autosomal recessive | Inferred relationship | Existential restriction modifier |
This concept is not in any reference sets
FHIR