719155005: X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \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 epilepsy with progressive joint contracture and facial dysmorphism 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 epilepsy with progressive joint contracture and facial dysmorphism 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 epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism 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 epilepsy with progressive joint contracture and facial dysmorphism 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 epilepsy with progressive joint contracture and facial dysmorphism 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 epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism 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 epilepsy with progressive joint contracture and facial dysmorphism 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 epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism 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 epilepsy with progressive joint contracture and facial dysmorphism 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 epilepsy with progressive joint contracture and facial dysmorphism 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
3315197011	X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315198018	X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315188012	This syndrome has characteristics of intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.	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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