1231283007: Congenital isolated adrenocorticotropic hormone deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Abdominal organ finding\Disorder of adrenal gland\Hypoadrenalism\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone 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\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Hypoadrenalism\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone 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\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone 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\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency
• \Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency
• \Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\...
• \Hypopituitarism\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency
• \Disorder of anterior pituitary\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency
• \Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\...
• \Hypopituitarism\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency
• \Disorder of anterior pituitary\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital isolated adrenocorticotropic hormone deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Congenital isolated adrenocorticotropic hormone deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital isolated adrenocorticotropic hormone deficiency
• \Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency
• \Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital isolated adrenocorticotropic hormone deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Congenital isolated adrenocorticotropic hormone deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Congenital isolated adrenocorticotropic hormone deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Hypoadrenalism\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Congenital isolated adrenocorticotropic hormone deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency
• \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\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of adrenal gland\Hypoadrenalism\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency
• \Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency
• \Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency
• \Disease\Congenital disease\Congenital isolated adrenocorticotropic hormone deficiency

Status: current, Primitive. Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5072045012	Congenital isolated adrenocorticotropic hormone deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5072046013	Congenital isolated adrenocorticotropic hormone deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
5072047016	Congenital isolated ACTH (adrenocorticotropic hormone) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5072048014	A rare endocrine disease characterised by neonatal hypoglycaemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma adrenocorticotropic hormone (ACTH) and cortisol levels in the absence of structural pituitary defects. Low partial growth hormone deficiency is sometimes associated.	en	Definition	Active	Case sensitive	SNOMED CT core
5072049018	A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma adrenocorticotropic hormone (ACTH) and cortisol levels in the absence of structural pituitary defects. Low partial growth hormone deficiency is sometimes associated.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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