OMOP Concept 37163332
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome
StandardConditionSNOMED1208936008Disorder
Maps from
0
Descendants
0
Valid from
31 Mar 2022
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome across source vocabularies.
- Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
- ELOVL4 (elongation of very long chain fatty acids-like 4) related neuro ichthyosis
- ELOVL4-related neuro ichthyosis
- neuroictiosis asociada al gen ELOVL4 (elongación de ácidos grasos de cadena muy larga tipo 4)
- síndrome de ictiosis congénita, discapacidad intelectual y cuadriplejía espástica
- síndrome de ictiosis congénita, discapacidad intelectual y cuadriplejía espástica (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(70)Roll up to these when you need a wider cohort.
- 1Autosomal recessive ichthyosis
- 1Disorder of lipid metabolism
- 1Global developmental delay
- 1Inherited metabolic disorder of nervous system
- 1Intellectual disability
- 1Spastic tetraplegia
- 2Autosomal recessive hereditary disorder
- 2Behavior finding
- 2Congenital ichthyosis of skin
- 2Developmental delay
- 2Disorder of limb
- 2Disorder of lipoprotein AND/OR lipid metabolism
- 2Hereditary disorder of nervous system
- 2Impaired cognition
- 2Inborn error of metabolism
- 2Intellectual ability - finding
- 2Neurodevelopmental disorder
- 2Spastic syndrome
- 2Tetraplegia
- 3Autosomal hereditary disorder
- 3Cognitive function finding
- 3Complete bilateral paralysis
- 3Congenital disease
- 3Developmental disorder
- 3Developmental hereditary disorder
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