764732004: syndrome de microcéphalie-hypoplasie cérébelleuse-trouble de la conduction cardiaque (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Viscus structure finding (finding)\constatation cardiaque\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\trouble de la conduction cardiaque\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\trouble de la conduction cardiaque\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\constatation cardiaque\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\trouble de la conduction cardiaque\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\trouble de la conduction cardiaque\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\trouble de la conduction cardiaque\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\trouble de la conduction cardiaque\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect 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 hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect 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\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect 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 hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect 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\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \constatation cardiovasculaire\constatation cardiaque\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\trouble de la conduction cardiaque\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\trouble de la conduction cardiaque\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Cardiovascular system hereditary disorder\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Cardiovascular system hereditary disorder\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Microcephalus, cerebellar hypoplasia, cardiac conduction defect 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 hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect 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\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect 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 hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect 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\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect 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 hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect 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\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\trouble de la conduction cardiaque\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\affection d'un système corporel\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\trouble de la conduction cardiaque\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\trouble de la conduction cardiaque\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, cerebellar hypoplasia, cardiac conduction defect 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\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3654656015	Zaki Gleeson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3654895016	Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654896015	Microcephaly, cerebellar hypoplasia, congenital heart conduction defect syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654897012	Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
767101000241118	syndrome de microcéphalie-hypoplasie cérébelleuse-trouble de la conduction cardiaque (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
879041000172112	syndrome de microcéphalie-hypoplasie cérébelleuse-trouble de la conduction cardiaque	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3654898019	A rare genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behavior, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3654899010	A rare genetic congenital anomalies/dysmorphic syndrome characterised by growth failure, global developmental delay, profound intellectual disability, autistic behaviour, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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