764732004: Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Conduction disorder of the heart\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Conduction disorder of the heart\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Conduction disorder of the heart\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Conduction disorder of the heart\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Conduction disorder of the heart\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Conduction disorder of the heart\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Finding of brain\Encephalopathy\...
• \Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\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
• \Disorder of head\Disorder of face\Congenital anomaly of face\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
• \Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\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
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Cardiovascular finding\Cardiac finding\Heart disease\Cardiac arrhythmia\Conduction disorder of the heart\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac arrhythmia\Conduction disorder of the heart\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac arrhythmia\Conduction disorder of the heart\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Conduction disorder of the heart\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac arrhythmia\Conduction disorder of the heart\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\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\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\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\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Congenital disease\Congenital cardiovascular disorder\Congenital conduction defect\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\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 anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\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 anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\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\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\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\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\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\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3654656015	Zaki Gleeson syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3654895016	Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3654896015	Microcephaly, cerebellar hypoplasia, congenital heart conduction defect syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3654897012	Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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