719157002: X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior 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\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior 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\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior 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\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \General finding of soft tissue\Poor muscle tone\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Muscle finding (finding)\Finding of muscle tone (finding)\Poor muscle tone\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Musculoskeletal finding (finding)\Poor muscle tone\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (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\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\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior 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\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior 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\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior 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\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\Mental disorder (disorder)\Developmental mental disorder\Disruptive behavior disorder\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Developmental mental disorder\Disruptive behavior disorder\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior 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\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
5401972014	A rare X-linked syndromic intellectual disability characterized by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioral abnormalities including aggressiveness, agitation, and self-injurious behavior, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401973016	A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
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
5401972014	A rare X-linked syndromic intellectual disability characterized by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioral abnormalities including aggressiveness, agitation, and self-injurious behavior, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401973016	A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3434651001000119	X-chromosomale Intelligenzminderung-Hypotonie-Gesichtsdysmorphien-aggressives Verhalten-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
3434651001000119	X-chromosomale Intelligenzminderung-Hypotonie-Gesichtsdysmorphien-aggressives Verhalten-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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