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1229943004: SIM bHLH transcription factor 1-related Prader-Willi-like syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\constatation à propos l'encéphale\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\...

\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome

\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome

\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\SIM1-related Prader-Willi-like syndrome

\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\affection de la tête\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\affection de la tête\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome

\constatation générale à propos de l'observation du patient\Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome

\Disease\Genetic disease\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\Disease\Disorder of embryonic structure (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\Disease\Disorder of embryonic structure (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\Disease\Obesity (disorder)\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\Disease\affection d'un système corporel\pathologie endocrinologique\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\Disease\affection d'un système corporel\pathologie endocrinologique\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\Disease\affection d'un système corporel\pathologie endocrinologique\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\Disease\affection de la tête\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\Disease\affection de la tête\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\Disease\Congenital disease\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\SIM1-related Prader-Willi-like syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

5065856016 SIM bHLH transcription factor 1-related Prader-Willi-like syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5065857013 SIM1-related Prader-Willi-like syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5065858015 SIM bHLH transcription factor 1-related Prader-Willi-like syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
SIM1-related Prader-Willi-like syndrome	est un(e) (attribut)	Prader-Willi-like syndrome	true	Inferred relationship	Some
SIM1-related Prader-Willi-like syndrome	interprète (attribut)	mesure du poids corporel	true	Inferred relationship	Some	4
SIM1-related Prader-Willi-like syndrome	a pour interprétation (attribut)	au-dessus de l'étendue de référence	true	Inferred relationship	Some	4
SIM1-related Prader-Willi-like syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
SIM1-related Prader-Willi-like syndrome	localisation d'une constatation (attribut)	face	true	Inferred relationship	Some	1
SIM1-related Prader-Willi-like syndrome	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
SIM1-related Prader-Willi-like syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
SIM1-related Prader-Willi-like syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	2
SIM1-related Prader-Willi-like syndrome	localisation d'une constatation (attribut)	Gonadal endocrine structure	true	Inferred relationship	Some	2
SIM1-related Prader-Willi-like syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
SIM1-related Prader-Willi-like syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	3
SIM1-related Prader-Willi-like syndrome	localisation d'une constatation (attribut)	Structure of pars distalis of pituitary (body structure)	true	Inferred relationship	Some	3
SIM1-related Prader-Willi-like syndrome	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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5065856016	SIM bHLH transcription factor 1-related Prader-Willi-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5065857013	SIM1-related Prader-Willi-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5065858015	SIM bHLH transcription factor 1-related Prader-Willi-like syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core