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770680004: 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
\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
\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
\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
\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
\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
\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

\Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\Prader-Willi-like syndrome

\Disease\Genetic disease\Prader-Willi-like syndrome
\Disease\Obesity (disorder)\Prader-Willi-like syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome
\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
\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
\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
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\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 (disorder)\Prader-Willi-like syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome
\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
\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
\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
\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
\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
\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
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome
\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
\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
\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
\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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Prader-Willi-like syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Prader-Willi-like syndrome	Interprets	Body weight measure	true	Inferred relationship	Some	4
Prader-Willi-like syndrome	Is a	Obesity (disorder)	true	Inferred relationship	Some
Prader-Willi-like syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	3
Prader-Willi-like syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Prader-Willi-like syndrome	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	true	Inferred relationship	Some
Prader-Willi-like syndrome	Is a	Congenital hypogonadotropic hypogonadism (disorder)	true	Inferred relationship	Some
Prader-Willi-like syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Prader-Willi-like syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Prader-Willi-like syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Prader-Willi-like syndrome	Finding site	Structure of pars distalis of pituitary (body structure)	true	Inferred relationship	Some	2
Prader-Willi-like syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Prader-Willi-like syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Prader-Willi-like syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Prader-Willi-like syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Prader-Willi-like syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	4
Prader-Willi-like syndrome	Is a	Genetic disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
6q16 microdeletion syndrome	Is a	True	Prader-Willi-like syndrome	Inferred relationship	Some
SIM1-related Prader-Willi-like syndrome	Is a	True	Prader-Willi-like syndrome	Inferred relationship	Some
MAGE family member L2-related Prader-Willi-like syndrome (disorder)	Is a	True	Prader-Willi-like syndrome	Inferred relationship	Some
CPE-related Prader-Willi-like syndrome	Is a	True	Prader-Willi-like syndrome	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3702087010	Prader-Willi-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702088017	Prader-Willi-like syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6712891000146117	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)
6712901000146116	Prader-Willi-'like' syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6712911000146119	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)
8531891000146114	PWLS	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3702089013	A rare genetic, endocrine disease with manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) occurring in the absence of 15q11-q13 genomic abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core