783092005: 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Disorder of adrenal gland\Hypoadrenalism\46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency

\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, adrenal insufficiency due to CYP11A1 deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Hypoadrenalism\46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Hypoadrenalism\46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Hypoadrenalism\46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Hypoadrenalism\46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Hypoadrenalism\46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Hypoadrenalism\46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 deficiency
\Disease\Developmental disorder\Developmental hereditary disorder\46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 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, adrenal insufficiency due to CYP11A1 deficiency

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3757551014 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency en Synonym Active Initial character case insensitive SNOMED CT core

3757552019 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3757554018 XY sex reversal adrenal failure en Synonym Active Case sensitive SNOMED CT core

3757556016 46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency en Synonym Active Initial character case insensitive SNOMED CT core

3757555017 A rare genetic developmental defect during embryogenesis disorder with characteristics of 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. Caused by heterozygous, compound heterozygous or homozygous mutation in the CYP11A1 gene on chromosome 15q23-q24. 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, adrenal insufficiency due to CYP11A1 deficiency	Is a	Hypoadrenalism	true	Inferred relationship	Some
46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency	Finding site	Genital structure	true	Inferred relationship	Some	1
46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency	Is a	Congenital malformation of genital organs	false	Inferred relationship	Some
46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency	Finding site	Adrenal structure	true	Inferred relationship	Some	2
46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency	Is a	46,XY disorder of sex development	true	Inferred relationship	Some
46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3757551014	46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3757552019	46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3757554018	XY sex reversal adrenal failure	en	Synonym	Active	Case sensitive	SNOMED CT core
3757556016	46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3757555017	A rare genetic developmental defect during embryogenesis disorder with characteristics of 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. Caused by heterozygous, compound heterozygous or homozygous mutation in the CYP11A1 gene on chromosome 15q23-q24.	en	Definition	Active	Case sensitive	SNOMED CT core