Autosomal recessive ichthyosis
Disorder of lipid metabolism
Global developmental delay
Inherited metabolic disorder of nervous system
Intellectual disability
Spastic tetraplegia
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Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome
ELOVL4-related neuro ichthyosis
ELOVL4 (elongation of very long chain fatty acids-like 4) related neuro ichthyosis
A rare autosomal ichthyosis syndrome with prominent neurologic signs and the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported.
Id1208936008
StatusPrimitive
Finding siteLimb structure
Finding siteStructure of central nervous system
Has interpretationAbnormal
InterpretsKeratinization
Associated morphologyHyperkeratosis
Finding siteEntire skin
OccurrenceCongenital
Pathological processPathological developmental process
ICD-10 complex map reference set
TargetQ80.8
RuleTRUE
AdviceALWAYS Q80.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified