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89392001: Prader-Willi syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi syndrome

\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi syndrome

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

\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi syndrome

\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi syndrome

\Disease\Genetic disease\Prader-Willi syndrome
\Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi syndrome
\Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\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\Prader-Willi syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi 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\Congenital hypogonadotropic hypogonadism\Prader-Willi 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\Congenital hypogonadotropic hypogonadism\Prader-Willi 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 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 syndrome
\Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi syndrome
\Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi syndrome
\Disease\Congenital disease\Congenital hypogonadotropic hypogonadism\Prader-Willi syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Prader-Willi syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Prader-Willi syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Prader-Willi syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

148214012 Prader-Willi syndrome en Synonym Active Case sensitive SNOMED CT core

3793256012 Prader Labhart Willi syndrome en Synonym Active Case sensitive SNOMED CT core

832276019 Prader-Willi syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Prader-Willi syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Prader-Willi syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Prader-Willi syndrome	Is a	Congenital hypogonadotropic hypogonadism	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 distal part of pituitary	true	Inferred relationship	Some	3
Prader-Willi syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	1
Prader-Willi syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Prader-Willi syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
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	Associated morphology	Congenital anomaly	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	Developmental abnormality	false	Inferred relationship	Some	2
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

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

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
148214012	Prader-Willi syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3793256012	Prader Labhart Willi syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
832276019	Prader-Willi syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core