770721009: Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Finding of brain\Encephalopathy\...
• \Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Leukoencephalopathy\Congenital anomaly of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Finding of head region\Leukoencephalopathy\Congenital anomaly of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Disorder of head\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \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\Congenital anomaly of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability 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 anomaly of cerebrum\Congenital anomaly of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Disease\Disorder of head\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3702242017	Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3702243010	Microcephaly, thin corpus callosum, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3702244016	A rare genetic syndromic intellectual disability disease with characteristics of progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated. Caused by homozygous mutation in the TAF2 gene on chromosome 8q23.	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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