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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\...
• \Intellectual disability\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Motor function behaviour finding\Behaviour showing increased motor activity\Hyperactive behaviour\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Acromegaly\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Acromegaly\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Acromegaly\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Acromegaly\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Functional finding\Increased hormone production\Hyperpituitarism\Acromegaly\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Endocrine finding\Increased hormone production\Hyperpituitarism\Acromegaly\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Acromegaly\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Acromegaly\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Acromegaly\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hyperpituitarism\Acromegaly\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability with acromegaly and hyperactivity syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability with acromegaly and hyperactivity syndrome

Status: current, Primitive. 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	Case sensitive	SNOMED CT core
3318056019	X-linked intellectual disability with acromegaly and hyperactivity syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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