1254652005: syndroom van verstandelijke beperking, macrocefalie, hypotonie en gedragsstoornis (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Body measurement finding\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \General finding of soft tissue\Poor muscle tone (finding)\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
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Functional finding\Cognitive function finding (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
• \Muscle finding\Muscle tone - finding\Poor muscle tone (finding)\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Muscle finding\Muscle tone - finding\Decreased muscle tone (finding)\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Muscle finding\Disorder of muscle\Congenital myopathy (disorder)\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Muscle finding\Disorder of muscle\Hereditary myopathy (disorder)\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Musculoskeletal finding\Poor muscle tone (finding)\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\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 foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Disorder of muscle\Congenital myopathy (disorder)\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Disorder of muscle\Hereditary myopathy (disorder)\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Mental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder (disorder)\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 (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 malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5142878014	Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5142879018	Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13950991000146119	syndroom van mentale retardatie, macrocefalie, verlaagde spierspanning en gedragsstoornis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13951001000146115	syndroom van verstandelijke handicap, macrocefalie, lage spiertonus en gedragsstoornis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13951011000146118	syndroom van verstandelijke beperking, macrocefalie, hypotonie en gedragsstoornis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13951021000146111	syndroom van verstandelijke beperking, macrocefalie, hypotonie en gedragsstoornis (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	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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