716334004: Intellectual disability and short stature with hand contracture and genital anomaly 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\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \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\Reproductive system hereditary disorder\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \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\Congenital malformation of genital organs\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \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\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Congenital malformation of genital organs\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \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\Reproductive system hereditary disorder\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \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\Congenital malformation of genital organs\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \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\Reproductive system hereditary disorder\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \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\Congenital malformation of genital organs\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Reproductive system hereditary disorder\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Reproductive system hereditary disorder\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Congenital malformation of genital organs\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Congenital malformation of genital organs\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3302591018	Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302592013	Intellectual disability and short stature with hand contracture and genital anomaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302593015	Urban Rogers Meyer syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305544015	Prader Willi habitus with osteopenia and camptodactyly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305545019	This syndrome has characteristics of intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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