764960005: Inherited isolated adrenal insufficiency due to partial 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\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

\Disorder of adrenal cortex\Adrenal insufficiency\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

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\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
\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\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial 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\Disorder of adrenal cortex\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial 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\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\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 of abdomen\Abdominal organ finding\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\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 of abdomen\Abdominal organ finding\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\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 of abdomen\Abdominal organ finding\Disorder of adrenal gland\Congenital anomaly of adrenal gland\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 of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\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 of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\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 of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Congenital anomaly of adrenal gland\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 of abdomen\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
\Finding of trunk structure\Disorder of trunk\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
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial 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\Disorder of adrenal cortex\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial 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\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
\Finding of trunk structure\Disorder of trunk\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\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\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 body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\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\Adrenal insufficiency\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\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\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
\Disease\Disorder of trunk\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\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
\Disease\Disorder of trunk\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 anomaly\Congenital abnormality of lower limb and pelvic girdle\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 anomaly\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 anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\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 anomaly\Congenital abnormality of lower limb and pelvic girdle\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\Developmental disorder\Congenital anomaly\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\Developmental disorder\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

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

3655781015 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency en Synonym Active Initial character case insensitive 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 Initial character case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	Is a	Congenital hypoplasia of adrenal gland	true	Inferred relationship	Some
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	Finding site	Adrenal cortex structure	true	Inferred relationship	Some	1

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
3655780019	Inherited isolated adrenal insufficiency due to partial cytochrome P450 family 11 subfamily A member 1 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3655781015	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	en	Synonym	Active	Initial character case insensitive	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	Initial character case insensitive	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	Case sensitive	SNOMED CT core