773419004: Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \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, behavioral abnormalities, facial dysmorphism syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)
• \Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\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, behavioral abnormalities, facial dysmorphism syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)
• \Disease\Developmental disorder (disorder)\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, behavioral abnormalities, facial dysmorphism syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)

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
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
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
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
3454031001000115	Schwere Intelligenzminderung-Kleinwuchs-Verhaltensstörungen-Gesichtsdysmorphie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
3454031001000115	Schwere Intelligenzminderung-Kleinwuchs-Verhaltensstörungen-Gesichtsdysmorphie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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