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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755619018	SCAR20 - autosomal recessive spinocerebellar ataxia type 20	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755620012	Autosomal recessive spinocerebellar ataxia type 20	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755621011	Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755618014	Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755619018	SCAR20 - autosomal recessive spinocerebellar ataxia type 20	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755620012	Autosomal recessive spinocerebellar ataxia type 20	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755621011	Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3385421001000111	Intelligenzminderung-grobe Gesichtsszüge-Makrozephalie-zerebelläre Hypoplasie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6327081000241117	ataxie spinocérébelleuse autosomique récessive de type 20	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6327091000241115	syndrome de déficience intellectuelle, traits grossiers du visage, macrocéphalie et hypotrophie cérébelleuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6327081000241117	ataxie spinocérébelleuse autosomique récessive de type 20	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6327091000241115	syndrome de déficience intellectuelle, traits grossiers du visage, macrocéphalie et hypotrophie cérébelleuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3385421001000111	Intelligenzminderung-grobe Gesichtsszüge-Makrozephalie-zerebelläre Hypoplasie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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