Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3308873013 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3308874019 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3308875018 | The most common form of congenital adrenal hyperplasia, divided into 2 clinical groups simple virilizing or salt wasting forms. Manifests with genital ambiguity in females and with adrenal insufficiency in both sexes. Girls present with ambiguous genitalia and the extent of virilization can vary from a nearly male appearance to minimal clitoromegaly. A normal uterus and various degrees of abnormal vaginal development are seen. The external genitalia in boys are normal. The disease is caused by a mutation in the CYP21A2 gene located on chromosome 6p21.3. Follows an autosomal recessive pattern of inheritance. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3308876017 | The most common form of congenital adrenal hyperplasia, divided into 2 clinical groups simple virilising or salt wasting forms. Manifests with genital ambiguity in females and with adrenal insufficiency in both sexes. Girls present with ambiguous genitalia and the extent of virilisation can vary from a nearly male appearance to minimal clitoromegaly. A normal uterus and various degrees of abnormal vaginal development are seen. The external genitalia in boys are normal. The disease is caused by a mutation in the CYP21A2 gene located on chromosome 6p21.3. Follows an autosomal recessive pattern of inheritance. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401537017 | A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenism. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401538010 | A form of congenital adrenal hyperplasia (CAH) characterised by simple virilising or salt wasting forms that can manifest with abnormal genital development with variable levels of virilisation in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycaemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenism. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) | Due to | 21-hydroxylase deficiency | false | Inferred relationship | Some | ||
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) | Is a | Congenital adrenal hyperplasia | true | Inferred relationship | Some | ||
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) | Associated morphology | Congenital hyperplasia | false | Inferred relationship | Some | 2 | |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) | Finding site | Adrenal cortex structure | false | Inferred relationship | Some | 2 | |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) | Due to | Deficiency of steroid 21-monooxygenase | true | Inferred relationship | Some | 2 | |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) | Finding site | Adrenal cortex structure | true | Inferred relationship | Some | 1 | |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) | Associated morphology | Hyperplasia | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Steroid 21-monooxygenase deficiency, simple virilising type | Is a | True | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) | Inferred relationship | Some | |
| Steroid 21-monooxygenase deficiency, salt wasting type | Is a | True | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) | Inferred relationship | Some |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR