1254650002: Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder)

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

Status: current, Primitive. Date: 31-Oct 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5142869015	Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5142870019	Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5142871015	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of variable degrees of developmental delay and intellectual disability with poor or absent speech, hypotonia, hypoplastic or absent corpus callosum and facial dysmorphism (such as long face, frontal bossing, hypertelorism, downslanting palpebral fissures and tented upper lip). Additional reported features include microcephaly, seizures, gait ataxia, scoliosis, and syndactyly of fingers, among others.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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