719826004: syndrome de déficience intellectuelle liée à l'X-acromégalie-hyperactivité (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Motor function behaviour finding\comportement indiquant une augmentation de l'activité motrice\comportement hyperactif (constatation)\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\Hyperpituitarism\Acromegaly\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\Hyperpituitarism\Acromegaly\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\Hyperpituitarism\Acromegaly\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\Hyperpituitarism\Acromegaly\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \constatation fonctionnelle\Increased hormone production\Hyperpituitarism\Acromegaly\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Endocrine finding\Increased hormone production\Hyperpituitarism\Acromegaly\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\Disorder of embryonic structure (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\Hyperpituitarism\Acromegaly\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\Hyperpituitarism\Acromegaly\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\Hyperpituitarism\Acromegaly\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\Hyperpituitarism\Acromegaly\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)
• \Disease\trouble du développement\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
754951000241117	syndrome de déficience intellectuelle liée à l'X-acromégalie-hyperactivité (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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 Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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