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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Disorder of adrenal gland\...
• \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 (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Finding of trunk structure\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 (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Developmental disorder\Developmental hereditary disorder\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland (disorder)\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
5404430018	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by 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
5404431019	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterised by 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

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

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