782917007: Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Measurement finding\Finding of substance level\Hormone level - finding\Gonadotrophin level - finding\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Viscus structure finding\Abdominal organ finding\Disorder of adrenal gland\...
• \Hypoadrenalism\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disorder of adrenal cortex\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\...
• \Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\...
• \Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Endocrine finding\Hormone abnormality\Abnormal pituitary luteinising hormone\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Hypoadrenalism\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex\Adrenal insufficiency\Congenital hypoplasia of adrenal gland\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Familial disease\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Congenital disease\Congenital hypogonadotropic hypogonadism\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Developmental disorder\Developmental hereditary disorder\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \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\Familial adrenal hypoplasia with absent pituitary luteinising hormone
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland\Familial adrenal hypoplasia with absent pituitary luteinising hormone

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3756684010	Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3756685011	Familial adrenal hypoplasia with absent pituitary luteinizing hormone	en	Synonym	Active	Case insensitive	SNOMED CT core
3756686012	Familial adrenal hypoplasia with absent pituitary luteinising hormone	en	Synonym	Active	Case insensitive	SNOMED CT core
3756687015	Familial adrenal hypoplasia miniature type	en	Synonym	Active	Case insensitive	SNOMED CT core
3756688013	A rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Case sensitive	SNOMED CT core
3756689017	A rare endocrine disease characterised by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organisation), selective absence of pituitary luteinising hormone in otherwise normal brain and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycaemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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