1187304005: Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une structure du tronc\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
• \constatation à propos d'une structure du tronc\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
• \constatation à propos d'une structure du tronc\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
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \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
• \affection de la tête\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
• \affection de la tête\Congenital anomaly of head\Congenital macrocephaly (disorder)\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \affection de la tête\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
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \affection de la tête\Disorder of brain (disorder)\trouble convulsif\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Neurological finding\Seizure related finding\convulsion\trouble convulsif\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\affection du tronc\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\affection de la tête\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\affection de la tête\Congenital anomaly of head\Congenital macrocephaly (disorder)\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\affection de la tête\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\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Congenital disease\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\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\trouble du développement\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\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macroencephaly\Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome
• \Disease\trouble du développement\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
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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