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Congenital insensitivity to pain with severe intellectual disability (disorder)
Congenital insensitivity to pain with severe intellectual disability
Congenital insensitivity to pain with severe non-progressive cognitive delay
Congenital analgesia with severe intellectual disability
Congenital insensitivity to pain with preserved temperature sensation
Congenital absence of pain with severe intellectual disability
Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay, and normal motor movement/behavior and strength. Affected cases retained hot and cold perception.
Id1237623009
StatusPrimitive
Clinical courseNon-progressive
Has interpretationImpaired
InterpretsIntellectual ability
Has interpretationImpaired
InterpretsAdaptation behavior
Finding siteNerve structure
OccurrenceCongenital
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetG60.8
RuleTRUE
AdviceALWAYS G60.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified