719157002: syndrome de déficience intellectuelle liée à l'X-hypotonie-dysmorphie faciale-comportement agressif (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation générale à propos des tissus mous\Poor muscle tone (finding)\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \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\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \constatation à propos d'un muscle\constatation à propos du tonus musculaire\Poor muscle tone (finding)\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Musculoskeletal finding\Poor muscle tone (finding)\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\trouble du comportement perturbateur\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\trouble du comportement perturbateur\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3315194016	X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315195015	X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315196019	X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
753601000241113	syndrome de déficience intellectuelle liée à l'X-hypotonie-dysmorphie faciale-comportement agressif (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
986081000172111	syndrome de déficience intellectuelle liée à l'X-hypotonie-dysmorphie faciale-comportement agressif	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3315186011	This syndrome is characterised by severe intellectual deficit, hypotonia, mild facial dysmorphism and aggressive behaviour. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315187019	This syndrome is characterized by severe intellectual deficit, hypotonia, mild facial dysmorphism and aggressive behavior. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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