773587008: X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Cardiac finding\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Cardiac finding\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• \Cardiovascular finding\Cardiac finding\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• \Cardiovascular finding\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• \Cardiovascular finding\Disorder of cardiovascular system\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Cardiovascular system hereditary disorder\X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Cardiovascular system hereditary disorder\X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• \Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• \Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• \Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\X-linked intellectual disability, cardiomegaly, congestive heart failure 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
3724303010	X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724304016	X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724305015	A rare X-linked syndromic intellectual disability disorder with characteristics of profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with over folded helix) and large testes. There is evidence the disease is caused by mutation in the CLIC2 gene on chromosome Xq28.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724303010	X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724304016	X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724305015	A rare X-linked syndromic intellectual disability disorder with characteristics of profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with over folded helix) and large testes. There is evidence the disease is caused by mutation in the CLIC2 gene on chromosome Xq28.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3408251001000118	X-chromosomale Intelligenzminderung-Kardiomegalie-kongestive Herzinsuffizienz-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
951111000172115	syndrome de déficience intellectuelle liée à l'X-cardiomégalie-insuffisance cardiaque congénitale	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
951111000172115	syndrome de déficience intellectuelle liée à l'X-cardiomégalie-insuffisance cardiaque congénitale	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3408251001000118	X-chromosomale Intelligenzminderung-Kardiomegalie-kongestive Herzinsuffizienz-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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