1260449002: Polyendocrine polyneuropathy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\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\Polyendocrine polyneuropathy syndrome
\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\Polyendocrine polyneuropathy syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Polyendocrine polyneuropathy syndrome
\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\Polyendocrine polyneuropathy syndrome
\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\Polyendocrine polyneuropathy syndrome
\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\Polyendocrine polyneuropathy syndrome
\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\Polyendocrine polyneuropathy syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Polyendocrine polyneuropathy syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Polyendocrine polyneuropathy syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Polyendocrine polyneuropathy syndrome
\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\Polyendocrine polyneuropathy syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\...

\Hypopituitarism\Hypogonadotropic hypogonadism\Polyendocrine polyneuropathy syndrome

\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Polyendocrine polyneuropathy syndrome

\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\...

\Hypopituitarism\Hypogonadotropic hypogonadism\Polyendocrine polyneuropathy syndrome

\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Polyendocrine polyneuropathy syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Polyendocrine polyneuropathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Polyendocrine polyneuropathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Polyendocrine polyneuropathy syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Polyendocrine polyneuropathy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Polyendocrine polyneuropathy syndrome
\Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Polyendocrine polyneuropathy syndrome
\Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Polyendocrine polyneuropathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Polyendocrine polyneuropathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Polyendocrine polyneuropathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Polyendocrine polyneuropathy syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Polyendocrine polyneuropathy syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Polyendocrine polyneuropathy syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Polyendocrine polyneuropathy syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Polyendocrine polyneuropathy syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Polyendocrine polyneuropathy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Polyendocrine polyneuropathy syndrome
\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\Polyendocrine polyneuropathy syndrome
\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\Polyendocrine polyneuropathy syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Polyendocrine polyneuropathy syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Polyendocrine polyneuropathy syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Polyendocrine polyneuropathy syndrome
\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\Polyendocrine polyneuropathy syndrome
\Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Polyendocrine polyneuropathy syndrome
\Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Polyendocrine polyneuropathy syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Polyendocrine polyneuropathy syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Polyendocrine polyneuropathy syndrome

Status: current, Primitive. Date: 31-Jan 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5160530017 Polyendocrine polyneuropathy syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

5160531018 Polyendocrine polyneuropathy syndrome en Synonym Active Case insensitive SNOMED CT core

5160533015 PEPNS - polyendocrine polyneuropathy syndrome en Synonym Active Case sensitive SNOMED CT core

5160532013 A rare genetic disease with characteristics of childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Polyendocrine polyneuropathy syndrome	Is a	Hypogonadotropic hypogonadism	true	Inferred relationship	Some
Polyendocrine polyneuropathy syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Polyendocrine polyneuropathy syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Polyendocrine polyneuropathy syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Polyendocrine polyneuropathy syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Polyendocrine polyneuropathy syndrome	Is a	Disorder of the peripheral nervous system	true	Inferred relationship	Some
Polyendocrine polyneuropathy syndrome	Is a	Neurodevelopmental disorder	true	Inferred relationship	Some
Polyendocrine polyneuropathy syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Polyendocrine polyneuropathy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Polyendocrine polyneuropathy syndrome	Occurrence	Childhood	true	Inferred relationship	Some	1
Polyendocrine polyneuropathy syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	1
Polyendocrine polyneuropathy syndrome	Occurrence	Childhood	true	Inferred relationship	Some	2
Polyendocrine polyneuropathy syndrome	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	2
Polyendocrine polyneuropathy syndrome	Occurrence	Childhood	true	Inferred relationship	Some	3
Polyendocrine polyneuropathy syndrome	Finding site	Structure of distal part of pituitary	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5160530017	Polyendocrine polyneuropathy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5160531018	Polyendocrine polyneuropathy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5160533015	PEPNS - polyendocrine polyneuropathy syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5160532013	A rare genetic disease with characteristics of childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities.	en	Definition	Active	Case sensitive	SNOMED CT core