1003380001: 6q16 microdeletion syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\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\6q16 microdeletion syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\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\6q16 microdeletion syndrome
• \constatation à propos d'une structure du tronc\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\6q16 microdeletion syndrome
• \constatation à propos du système nerveux central\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\6q16 microdeletion syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\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\6q16 microdeletion syndrome
• \constatation à propos du système nerveux central\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\6q16 microdeletion syndrome
• \constatation à propos du système nerveux central\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\6q16 microdeletion syndrome
• \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\6q16 microdeletion syndrome
• \Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\6q16 microdeletion 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\6q16 microdeletion 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\6q16 microdeletion 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\6q16 microdeletion 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\6q16 microdeletion 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\6q16 microdeletion 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\6q16 microdeletion syndrome
• \Disease\Genetic disease\Prader-Willi-like syndrome\6q16 microdeletion 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\6q16 microdeletion 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\6q16 microdeletion syndrome
• \Disease\Obesity (disorder)\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 6 (disorder)\Deletion of part of long arm of chromosome 6 (disorder)\6q16 microdeletion syndrome
• \Disease\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 6 (trouble)\Deletion of part of chromosome 6 (disorder)\Deletion of part of long arm of chromosome 6 (disorder)\6q16 microdeletion 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\6q16 microdeletion 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\6q16 microdeletion 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\6q16 microdeletion 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\6q16 microdeletion 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\6q16 microdeletion 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\6q16 microdeletion 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\6q16 microdeletion 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\6q16 microdeletion 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\6q16 microdeletion 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\6q16 microdeletion 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\6q16 microdeletion syndrome
• \Disease\Congenital disease\Congenital hypogonadotropic hypogonadism (disorder)\Prader-Willi-like syndrome\6q16 microdeletion 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\6q16 microdeletion 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\6q16 microdeletion 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\6q16 microdeletion syndrome
• \Disease\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 6 (disorder)\Deletion of part of long arm of chromosome 6 (disorder)\6q16 microdeletion syndrome
• \Disease\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 6 (trouble)\Deletion of part of chromosome 6 (disorder)\Deletion of part of long arm of chromosome 6 (disorder)\6q16 microdeletion 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\6q16 microdeletion 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\6q16 microdeletion 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\6q16 microdeletion syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4165359010	Prader-Willi-like syndrome due to microdeletion 6q16	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4165360017	6q16 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4165361018	6q16 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4168117017	Obesity due to 6q16 deletion	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start