782753000: Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Finding related to coordination / incoordination\Ataxia\...
• \Hereditary ataxia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Cerebellar ataxia\Early onset cerebellar ataxia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy 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\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy 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\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy 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\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy 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\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy 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\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy 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\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy 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\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy 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\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy 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\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy 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\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy 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\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy 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\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy 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\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy 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\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy 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\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy 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\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy 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\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy 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\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3755618014	Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3755619018	SCAR20 - autosomal recessive spinocerebellar ataxia type 20	en	Synonym	Active	Case sensitive	SNOMED CT core
3755620012	Autosomal recessive spinocerebellar ataxia type 20	en	Synonym	Active	Case insensitive	SNOMED CT core
3755621011	Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3755622016	A rare genetic central nervous system malformation syndrome with characteristics of early-onset progressive severe cerebellar ataxia associated with progressive moderate to severe intellectual disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia. There is evidence the disease is caused by homozygous mutation in the SNX14 gene on chromosome 6q14.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start