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880094008: 46,XY disorder of sex development (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4008247017 46,XY disorder of sex development en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4008248010 46,XY disorder of sex development (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
916311000195112 disturbo dello sviluppo sessuale 46,XY it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7688701000241111 trouble du développement sexuel 46,XY fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
861611000195119 46,XY-Störung der Geschlechtsentwicklung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

14 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
46,XY disorder of sex development Is a Congenital malformation of genital organs true Inferred relationship Some
46,XY disorder of sex development Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
46,XY disorder of sex development Finding site Genital structure true Inferred relationship Some 1
46,XY disorder of sex development Occurrence Congenital true Inferred relationship Some 1
46,XY disorder of sex development Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
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. Is a True 46,XY disorder of sex development Inferred relationship Some
46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumors are frequently associated. Is a True 46,XY disorder of sex development Inferred relationship Some
46,XY disorder of sex development due to environmental chemical exposure (disorder) Is a True 46,XY disorder of sex development Inferred relationship Some
46,XY disorder of sex development due to maternal ingestion of progestogen (disorder) Is a True 46,XY disorder of sex development Inferred relationship Some
A rare difference of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by female or atypical external genitalia with reduced phallic size, hypospadias, incomplete fusion of the labioscrotal swellings, 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. Is a True 46,XY disorder of sex development Inferred relationship Some
A rare genetic disease characterized by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections, and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted nares, camptodactyly, and arachnodactyly, among others) may also be observed. Is a True 46,XY disorder of sex development Inferred relationship Some
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. Is a True 46,XY disorder of sex development Inferred relationship Some
A rare difference of sex development (DSD) characterised by the presence of female external genitalia, ambiguous genitalia or variable defects in virilisation in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). Is a True 46,XY disorder of sex development Inferred relationship Some

This concept is not in any reference sets

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