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89392001: Prader-Willi-syndroom (aandoening)

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

\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 syndrome
\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 syndrome
\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 syndrome
\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 syndrome

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Prader-Willi syndrome	Is a	Anomaly of chromosome pair 15	false	Inferred relationship	Some
Prader-Willi syndrome	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	false	Inferred relationship	Some
Prader-Willi syndrome	Finding site	Chromosome pair 15	false	Inferred relationship	Some	1
Prader-Willi syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
Prader-Willi syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Prader-Willi syndrome	Finding site	Brain structure	false	Inferred relationship	Some	2
Prader-Willi syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Prader-Willi syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Prader-Willi syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Prader-Willi syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Prader-Willi syndrome	Finding site	Chromosome pair 15	false	Inferred relationship	Some	1
Prader-Willi syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Prader-Willi syndrome	Finding site	Chromosome pair 15	false	Inferred relationship	Some	1
Prader-Willi syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Prader-Willi syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Prader-Willi syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Prader-Willi syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Prader-Willi syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Prader-Willi syndrome	Is a	Congenital hypogonadotropic hypogonadism (disorder)	true	Inferred relationship	Some
Prader-Willi syndrome	Is a	Genetic disease	true	Inferred relationship	Some
Prader-Willi syndrome	Is a	Neurodevelopmental disorder	true	Inferred relationship	Some
Prader-Willi syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Prader-Willi syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Prader-Willi syndrome	Finding site	Structure of pars distalis of pituitary (body structure)	true	Inferred relationship	Some	3
Prader-Willi syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Family history of Prader-Willi syndrome	Associated finding	True	Prader-Willi syndrome	Inferred relationship	Some	1

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
148214012	Prader-Willi syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
832276019	Prader-Willi syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3793256012	Prader Labhart Willi syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
360841000146111	Prader-Willi-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
360851000146114	Prader-Willi-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7075711000146117	syndroom van Prader-Willi	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7673651000146115	Hierbij is er sprake van een combinatie van spierzwakte, niet goed ontwikkelde geslachtsorganen, verstandelijke achterstand en vetzucht.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)