719157002: X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)

\General finding of soft tissue\Poor muscle tone (finding)\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)

\Finding of head and neck region\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)

\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)
\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)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)

\Muscle finding\Muscle tone - finding\Poor muscle tone (finding)\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\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\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\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 body system\Hereditary disorder by system\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\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 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\Developmental mental disorder\Disruptive behavior disorder\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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\Congenital disease (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)
\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\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\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\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\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

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

3927541000052117 syndrom med X-bunden intellektuell funktionsnedsättning, hypotoni, ansiktsmissbildning och aggressivt beteende sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Is a	Disruptive behavior disorder	true	Inferred relationship	Some
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Is a	Disorder of skeletal muscle	true	Inferred relationship	Some
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Is a	mental retardation	false	Inferred relationship	Some
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Is a	Poor muscle tone (finding)	true	Inferred relationship	Some
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Interprets	Muscle tone	true	Inferred relationship	Some	3
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	3
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	3
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
3927541000052117	syndrom med X-bunden intellektuell funktionsnedsättning, hypotoni, ansiktsmissbildning och aggressivt beteende	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)