719826004: X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hyperpituitarism\Acromegaly (disorder)\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hyperpituitarism\Acromegaly (disorder)\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\...
• \Intelligenzminderung\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Motor function behavior finding\Behavior showing increased motor activity\Hyperactive behaviour\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hyperpituitarism\Acromegaly (disorder)\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hyperpituitarism\Acromegaly (disorder)\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Functional finding\Increased hormone production\Hyperpituitarism\Acromegaly (disorder)\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Endocrine finding\Increased hormone production\Hyperpituitarism\Acromegaly (disorder)\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability with acromegaly and hyperactivity 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 acromegaly and hyperactivity syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hyperpituitarism\Acromegaly (disorder)\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hyperpituitarism\Acromegaly (disorder)\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hyperpituitarism\Acromegaly (disorder)\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\X-linked intellectual disability with acromegaly and hyperactivity 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
3318055015	X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318056019	X-linked intellectual disability with acromegaly and hyperactivity syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402239015	X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402240018	X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318055015	X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318056019	X-linked intellectual disability with acromegaly and hyperactivity syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318061017	This syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318062012	This syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402239015	X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402240018	X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3389901001000112	X-chromosomale Intelligenzminderung-Akromegalie-Hyperaktivität-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
998621000172116	syndrome de déficience intellectuelle liée à l'X-acromégalie-hyperactivité	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
998621000172116	syndrome de déficience intellectuelle liée à l'X-acromégalie-hyperactivité	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3389901001000112	X-chromosomale Intelligenzminderung-Akromegalie-Hyperaktivität-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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