719140001: X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \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\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy 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\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy 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\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability with dysmorphism and cerebral atrophy 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 with dysmorphism and cerebral atrophy 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\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy 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\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy 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\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy 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\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy 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\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with dysmorphism and cerebral atrophy 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
3315146015	X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315147012	X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315148019	Prieto Badia Mulas syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401966014	An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401967017	An X-linked syndromic intellectual disability characterised by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315146015	X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315147012	X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315148019	Prieto Badia Mulas syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315149010	This syndrome has characteristics of intellectual deficit associated with facial dysmorphism, patella luxation and abnormal growth of the teeth. It has been described in eight males from multiple generations of one family. The locus for the causative gene for this syndrome has been located to the region between p11.22 and p21.1 on the X chromosome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401966014	An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401967017	An X-linked syndromic intellectual disability characterised by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3440611001000114	X-chromosomale Intelligenzminderung-Dysmorphie-zerebrale Atrophie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
990331000172111	syndrome de Prieto-Badia-Mulas	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1007841000172117	syndrome de déficience intellectuelle liée à l'X-dysmorphie-atrophie cérébrale	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
990331000172111	syndrome de Prieto-Badia-Mulas	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1007841000172117	syndrome de déficience intellectuelle liée à l'X-dysmorphie-atrophie cérébrale	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3440611001000114	X-chromosomale Intelligenzminderung-Dysmorphie-zerebrale Atrophie-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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