1254652005: Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \General finding of soft tissue\Poor muscle tone\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Macrocephaly\Congenital macrocephaly\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Macrocephaly\Congenital macrocephaly\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Muscle finding\Muscle tone - finding\Poor muscle tone\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Muscle finding\Muscle tone - finding\Decreased muscle tone\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Musculoskeletal finding\Poor muscle tone\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Myopathy\Disorder of skeletal muscle\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Mental illness\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome

Status: current, Primitive. Date: 31-Oct 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5142877016	Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5142878014	Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5142879018	Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5142880015	A rare syndromic intellectual disability with characteristics of hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Mental health disorder reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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