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

SNOMED CT Concept\Clinical finding\...

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XY disorder of sex development\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\46,XY disorder of sex development\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XY disorder of sex development\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\46,XY disorder of sex development\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\46,XY disorder of sex development\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XY disorder of sex development\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XY disorder of sex development\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\46,XY disorder of sex development\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XY disorder of sex development\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XY disorder of sex development\46,XY disorder of sex development due to isolated 17,20-lyase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\46,XY disorder of sex development\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XY disorder of sex development\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XY disorder of sex development\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\46,XY disorder of sex development\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XY disorder of sex development\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XY disorder of sex development\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XY disorder of sex development\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XY disorder of sex development\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Disease\Developmental disorder\Developmental hereditary disorder\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XY disorder of sex development\46,XY disorder of sex development due to isolated 17,20-lyase deficiency
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\46,XY disorder of sex development\46,XY disorder of sex development due to isolated 17,20-lyase deficiency

Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core

5072037019 46,XY disorder of sex development due to isolated 17,20-lyase deficiency en Synonym Active Initial character case insensitive 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 Case sensitive SNOMED CT core

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	Some
46,XY disorder of sex development due to isolated 17,20-lyase deficiency	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
46,XY disorder of sex development due to isolated 17,20-lyase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
46,XY disorder of sex development due to isolated 17,20-lyase deficiency	Is a	46,XY disorder of sex development	true	Inferred relationship	Some
46,XY disorder of sex development due to isolated 17,20-lyase deficiency	Due to	17 alpha-Hydroxyprogesterone aldolase deficiency	true	Inferred relationship	Some	2
46,XY disorder of sex development due to isolated 17,20-lyase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
46,XY disorder of sex development due to isolated 17,20-lyase deficiency	Finding site	Genital structure	true	Inferred relationship	Some	1
46,XY disorder of sex development due to isolated 17,20-lyase deficiency	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
46,XY disorder of sex development due to isolated 17,20-lyase deficiency	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

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Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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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	Initial character case insensitive	SNOMED CT core
5072037019	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core