764960005: Inherited isolated adrenal insufficiency due to partial cytochrome P450 family 11 subfamily A member 1 deficiency (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Viscus structure finding (finding)\constatation à propos d'un organe abdominal\Disorder of adrenal gland (disorder)\...
• \Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\affection d'un système corporel\pathologie endocrinologique\anomalie congénitale d'une glande endocrine\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'une glande endocrine\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\trouble du développement\Developmental hereditary disorder\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'une glande endocrine\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3655780019	Inherited isolated adrenal insufficiency due to partial cytochrome P450 family 11 subfamily A member 1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3655781015	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3655782010	Inherited isolated adrenal insufficiency due to partial cytochrome P450 family 11 subfamily A member 1 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3655783017	A rare genetic chronic primary adrenal insufficiency disorder due to partial loss-of-function CYP11A1 mutations. The disease has characteristics of early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolyte abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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