1187304005: syndroom van macrocefalie, verstandelijke beperking, neurobiologische ontwikkelingsstoornis en kleine thorax (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax 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\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax 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\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax 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\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Body measurement finding\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax 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\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax 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\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4673264017	MINDS syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673265016	Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4673266015	Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4673267012	Smith Kingsmore syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673268019	MINDS (macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13246231000146114	syndroom van macrocefalie, verstandelijke beperking, neurobiologische ontwikkelingsstoornis en kleine thorax	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13246241000146118	syndroom van macrocefalie, verstandelijke handicap, neurologische ontwikkelingsstoornis en kleine borstkas	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13246251000146115	syndroom van macrocefalie, mentale retardatie, neurobiologische ontwikkelingsstoornis en kleine thorax	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13246261000146117	syndroom van macrocefalie, verstandelijke beperking, neurobiologische ontwikkelingsstoornis en kleine thorax (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13246431000146110	MINDS-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13246441000146119	syndroom van Smith-Kingsmore	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13305471000146117	Smith-Kingsmore-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4673269010	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, with characteristics of macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge and macrostomia), megalencephaly and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behaviour and cafe-au-lait spots among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673270011	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, with characteristics of macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge and macrostomia), megalencephaly and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior and cafe-au-lait spots among others.	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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