1231283007: Congenital isolated adrenocorticotropic hormone deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Disorder of adrenal gland\Hypoadrenalism\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency (disorder)

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency (disorder)

\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\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Hypoadrenalism\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\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\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\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\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\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 (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Hypoadrenalism\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\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\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\ACTH deficiency\Isolated corticotropin deficiency\Congenital isolated adrenocorticotropic hormone deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

5072046013 Congenital isolated adrenocorticotropic hormone deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5072047016 Congenital isolated ACTH (adrenocorticotropic hormone) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5400196013 A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400197016 A rare endocrine disease characterised by neonatal hypoglycaemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital isolated adrenocorticotropic hormone deficiency (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Congenital isolated adrenocorticotropic hormone deficiency (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Congenital isolated adrenocorticotropic hormone deficiency (disorder)	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Congenital isolated adrenocorticotropic hormone deficiency (disorder)	Is a	Isolated corticotropin deficiency	true	Inferred relationship	Some
Congenital isolated adrenocorticotropic hormone deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital isolated adrenocorticotropic hormone deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital isolated adrenocorticotropic hormone deficiency (disorder)	Finding site	Adrenal structure	true	Inferred relationship	Some	1
Congenital isolated adrenocorticotropic hormone deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital isolated adrenocorticotropic hormone deficiency (disorder)	Finding site	Structure of pars distalis of pituitary (body structure)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5072045012	Congenital isolated adrenocorticotropic hormone deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5072046013	Congenital isolated adrenocorticotropic hormone deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5072047016	Congenital isolated ACTH (adrenocorticotropic hormone) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5400196013	A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400197016	A rare endocrine disease characterised by neonatal hypoglycaemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core