773419004: syndrome de déficience intellectuelle sévère-petite taille-troubles du comportement-dysmorphie faciale (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \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\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism 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\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723483016	Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723484010	Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723485011	Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
771361000241115	syndrome de déficience intellectuelle sévère-petite taille-troubles du comportement-dysmorphie faciale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
956901000172112	syndrome de déficience intellectuelle sévère-petite taille-troubles du comportement-dysmorphie faciale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3723486012	A rare genetic syndromic intellectual disability disorder characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition. Caused by homozygous mutation in the TTI2 gene on chromosome 8p12.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723487015	A rare genetic syndromic intellectual disability disorder characterised by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioural disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition. Caused by homozygous mutation in the TTI2 gene on chromosome 8p12.	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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