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1231281009: 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder)

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
5400193017 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400194011 A rare difference of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5400193017 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400194011 A rare difference of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3441401001000117 Störung der Geschlechtsentwicklung 46,XY, durch isolierten 17,20-Lyase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3441401001000117 Störung der Geschlechtsentwicklung 46,XY, durch isolierten 17,20-Lyase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
46,XY disorder of sex development due to isolated 17,20-lyase deficiency Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
46,XY disorder of sex development due to isolated 17,20-lyase deficiency Is a Reproductive system hereditary disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
46,XY disorder of sex development due to isolated 17,20-lyase deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
46,XY disorder of sex development due to isolated 17,20-lyase deficiency Is a 46,XY disorder of sex development true Inferred relationship Existential restriction modifier (core metadata concept)
46,XY disorder of sex development due to isolated 17,20-lyase deficiency Due to 17 alpha-Hydroxyprogesterone aldolase deficiency true Inferred relationship Existential restriction modifier (core metadata concept) 2
46,XY disorder of sex development due to isolated 17,20-lyase deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
46,XY disorder of sex development due to isolated 17,20-lyase deficiency Finding site Genital structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
46,XY disorder of sex development due to isolated 17,20-lyase deficiency Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
46,XY disorder of sex development due to isolated 17,20-lyase deficiency Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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