766871009: Diencephalic mesencephalic junction dysplasia (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Diencephalic mesencephalic junction dysplasia
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Diencephalic mesencephalic junction dysplasia
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Diencephalic mesencephalic junction dysplasia
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Diencephalic mesencephalic junction dysplasia
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Diencephalic mesencephalic junction dysplasia
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Diencephalic mesencephalic junction dysplasia
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Diencephalic mesencephalic junction dysplasia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Diencephalic mesencephalic junction dysplasia
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Diencephalic mesencephalic junction dysplasia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Diencephalic mesencephalic junction dysplasia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Diencephalic mesencephalic junction dysplasia
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Diencephalic mesencephalic junction dysplasia
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Diencephalic mesencephalic junction dysplasia
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Diencephalic mesencephalic junction dysplasia
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Diencephalic mesencephalic junction dysplasia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Diencephalic mesencephalic junction dysplasia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Diencephalic mesencephalic junction dysplasia
• \Disease\Developmental disorder\Developmental hereditary disorder\Diencephalic mesencephalic junction dysplasia
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Diencephalic mesencephalic junction dysplasia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Diencephalic mesencephalic junction dysplasia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Diencephalic mesencephalic junction dysplasia

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3662965012	Diencephalic mesencephalic junction dysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3662966013	Diencephalic mesencephalic junction dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3662967016	A rare genetic non-syndromic cerebral malformation with characteristics of severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characteristically observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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