Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5072036011 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5072037019 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5072038012 | A rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and has characteristics of ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol and low basal and stimulated androgen 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 due to isolated 17,20-lyase deficiency (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder) | est un(e) (attribut) | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder) | est un(e) (attribut) | 46,XY disorder of sex development | true | Inferred relationship | Some | ||
| 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder) | Due to | 17 alpha-Hydroxyprogesterone aldolase deficiency (disorder) | true | Inferred relationship | Some | 2 | |
| 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder) | localisation d'une constatation (attribut) | Genital structure | true | Inferred relationship | Some | 1 | |
| 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR