OMOP Concept 37163226
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
StandardConditionSNOMED1208727002Disorder
Maps from
0
Descendants
0
Valid from
31 Mar 2022
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome across source vocabularies.
- Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder)
- síndrome de discapacidad intelectual grave, agenesia de cuerpo calloso, dimorfismo facial y ataxia cerebelosa
- síndrome de discapacidad intelectual grave, agenesia de cuerpo calloso, dimorfismo facial y ataxia cerebelosa (trastorno)
- síndrome de discapacidad intelectual grave, agenesia de cuerpo calloso, dismorfia facial y ataxia cerebelosa
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(64)Roll up to these when you need a wider cohort.
- 1Agenesis of corpus callosum
- 1Autosomal recessive hereditary disorder
- 1Congenital cerebellar hypoplasia
- 1Congenital microcephaly
- 1Developmental hereditary disorder
- 1Genetic intellectual disability
- 1Hereditary disorder of nervous system
- 1Multiple malformation syndrome with facial defects as major feature
- 1Severe intellectual disability
- 2Aplasia of corpus callosum
- 2Autosomal hereditary disorder
- 2Congenital anomaly of face
- 2Congenital anomaly of head
- 2Congenital hypoplasia of part of brain
- 2Congenital malformation of cerebellum
- 2Developmental disorder
- 2Disorder of nervous system
- 2Genetic disease
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Intellectual disability
- 2Microcephaly
- 2Multiple system malformation syndrome
- 3Abnormal behavior
- 3Cerebellar disorder
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