1229946007: MAGE family member L2-related Prader-Willi-like 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\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like 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\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like 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\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome

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

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

\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome

\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disorder of head\Disorder of brain\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disorder of head\Disorder of brain\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome

\General finding of observation of patient\Body measurement finding\Weight finding\High body weight\Obese\Obesity\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome

\Disease\Genetic disease\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disease\Obesity\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like 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\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disease\Disorder of head\Disorder of brain\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disease\Disorder of head\Disorder of brain\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disease\Congenital disease\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-May 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5065865011 MAGE family member L2-related Prader-Willi-like syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

5065866012 MAGE family member L2-related Prader-Willi-like syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

5065867015 MAGEL2-related Prader-Willi-like syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

5065868013 Schaaf Yang syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
MAGE family member L2-related Prader-Willi-like syndrome	Is a	Prader-Willi-like syndrome	true	Inferred relationship	Existential restriction modifier
MAGE family member L2-related Prader-Willi-like syndrome	Interprets	Measured body weight	true	Inferred relationship	Existential restriction modifier	4
MAGE family member L2-related Prader-Willi-like syndrome	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier	4
MAGE family member L2-related Prader-Willi-like syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
MAGE family member L2-related Prader-Willi-like syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
MAGE family member L2-related Prader-Willi-like syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
MAGE family member L2-related Prader-Willi-like syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
MAGE family member L2-related Prader-Willi-like syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
MAGE family member L2-related Prader-Willi-like syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Existential restriction modifier	2
MAGE family member L2-related Prader-Willi-like syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
MAGE family member L2-related Prader-Willi-like syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
MAGE family member L2-related Prader-Willi-like syndrome	Finding site	Structure of pars distalis of pituitary	true	Inferred relationship	Existential restriction modifier	3
MAGE family member L2-related Prader-Willi-like syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5065865011	MAGE family member L2-related Prader-Willi-like syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
5065866012	MAGE family member L2-related Prader-Willi-like syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5065867015	MAGEL2-related Prader-Willi-like syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5065868013	Schaaf Yang syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module