1229946007: 'MAGE family member L2'-gerelateerd Prader-Willi-achtig syndroom (aandoening)

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

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

\Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome (disorder)

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

\Disease\Genetic disease\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome (disorder)
\Disease\Obesity (disorder)\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome (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\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome (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\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\MAGE family member L2-related Prader-Willi-like syndrome (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
MAGE family member L2-related Prader-Willi-like syndrome (disorder)	Is a	Prader-Willi-like syndrome	true	Inferred relationship	Some
MAGE family member L2-related Prader-Willi-like syndrome (disorder)	Interprets	Body weight measure	true	Inferred relationship	Some	4
MAGE family member L2-related Prader-Willi-like syndrome (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	4
MAGE family member L2-related Prader-Willi-like syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
MAGE family member L2-related Prader-Willi-like syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
MAGE family member L2-related Prader-Willi-like syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
MAGE family member L2-related Prader-Willi-like syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
MAGE family member L2-related Prader-Willi-like syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
MAGE family member L2-related Prader-Willi-like syndrome (disorder)	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	2
MAGE family member L2-related Prader-Willi-like syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
MAGE family member L2-related Prader-Willi-like syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
MAGE family member L2-related Prader-Willi-like syndrome (disorder)	Finding site	Structure of pars distalis of pituitary (body structure)	true	Inferred relationship	Some	3
MAGE family member L2-related Prader-Willi-like syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	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 (core metadata concept)	SNOMED CT core
5065866012	MAGE family member L2-related Prader-Willi-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5065867015	MAGEL2-related Prader-Willi-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5065868013	Schaaf Yang syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13607391000146113	'MAGE family member L2'-gerelateerd Prader-Willi-achtig syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13607401000146111	MAGEL2-gerelateerd PWLS	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13607411000146113	'MAGE family member L2'-gerelateerd Prader-Willi-achtig syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13607421000146115	syndroom van Schaaf-Yang	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)