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890460004: 46,XX 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
4012687018 46,XX disorder of sex development en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4012688011 46,XX disorder of sex development (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
7690181000241115 trouble du développement sexuel 46,XX fr Synonym (core metadata concept) Active Only initial character case insensitive (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,XX disorder of sex development Is a Congenital malformation of genital organs true Inferred relationship Some
46,XX disorder of sex development Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
46,XX disorder of sex development Finding site Genital structure true Inferred relationship Some 1
46,XX disorder of sex development Occurrence Congenital true Inferred relationship Some 1
46,XX disorder of sex development Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
46,XX disorder of sex development caused by testosterone and/or testosterone derivative Is a True 46,XX disorder of sex development Inferred relationship Some
46,XX androgen-induced disorder of sex development due to maternal adrenal hyperplasia (disorder) Is a True 46,XX disorder of sex development Inferred relationship Some
46,XX androgen-induced disorder of sex development of iatrogenic maternal origin Is a True 46,XX disorder of sex development Inferred relationship Some
46,XX disorder of sex development caused by synthetic oral progestogen (disorder) Is a True 46,XX disorder of sex development Inferred relationship Some
46,XX disorder of sex development caused by synthetic oral diethylstilbestrol Is a True 46,XX disorder of sex development Inferred relationship Some
46,XX testicular disorder of sex development (disorder) Is a True 46,XX disorder of sex development Inferred relationship Some
A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972. Is a True 46,XX disorder of sex development Inferred relationship Some
A rare developmental defect during embryogenesis characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Mullerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut. Is a True 46,XX disorder of sex development Inferred relationship Some
46,XX disorder of sex development due to maternal adrenal neoplasm (disorder) Is a True 46,XX disorder of sex development Inferred relationship Some
46,XX disorder of sex development due to maternal androluteoma (disorder) Is a True 46,XX disorder of sex development Inferred relationship Some
46,XX disorder of sex development due to maternal arrhenoblastoma (disorder) Is a True 46,XX disorder of sex development Inferred relationship Some
46,XX disorder of sex development due to maternal Krukenberg neoplasm (disorder) Is a True 46,XX disorder of sex development Inferred relationship Some
A rare difference of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype. Is a True 46,XX disorder of sex development Inferred relationship Some
A rare genetic disorder with difference of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype. Is a True 46,XX disorder of sex development Inferred relationship Some

This concept is not in any reference sets

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