Status: current. Date: 30-Jul 2019
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3757551014 | 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3757552019 | 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3757554018 | XY sex reversal adrenal failure | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3757555017 | A rare genetic developmental defect during embryogenesis disorder with characteristics of severe early-onset salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens and sodium with elevated potassium levels. Caused by heterozygous, compound heterozygous or homozygous mutation in the CYP11A1 gene on chromosome 15q23-q24. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3757556016 | 46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5408455015 | A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408456019 | A rare, genetic, developmental defect during embryogenesis disorder characterised by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) | Is a | Hypoadrenalism | true | SNOMED RT Concept | SNOMED RT Concept | ||
| 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) | Occurrence | Congenital | true | SNOMED RT Concept | SNOMED RT Concept | 1 | |
| 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) | Is a | Reproductive system hereditary disorder | true | SNOMED RT Concept | SNOMED RT Concept | ||
| 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) | Finding site | Genital structure | true | SNOMED RT Concept | SNOMED RT Concept | 1 | |
| 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | SNOMED RT Concept | SNOMED RT Concept | 1 | |
| 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) | Is a | Autosomal hereditary disorder | true | SNOMED RT Concept | SNOMED RT Concept | ||
| 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | SNOMED RT Concept | SNOMED RT Concept | 1 | |
| 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) | Is a | Congenital malformation of genital organs (disorder) | false | SNOMED RT Concept | SNOMED RT Concept | ||
| 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) | Finding site | Adrenal structure | true | SNOMED RT Concept | SNOMED RT Concept | 2 | |
| 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | SNOMED RT Concept | SNOMED RT Concept | ||
| 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) | Is a | 46,XY disorder of sex development | true | SNOMED RT Concept | SNOMED RT Concept | ||
| 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) | Is a | Developmental hereditary disorder | true | SNOMED RT Concept | SNOMED RT Concept |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR