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Monocarboxylate transporter 8 deficiency (disorder)
Allan-Herndon-Dudley syndrome
Monocarboxylate transporter 8 deficiency
Allan-Herndon syndrome
Id702327009
StatusPrimitive
Associated morphologyDegenerative abnormality
Finding siteSpinal cord structure
Finding siteThyroid structure
OccurrenceCongenital
Clinical courseProgressive
Has interpretationDecreased
InterpretsMuscle tone
Has interpretationImpaired
InterpretsIntellectual ability
Has interpretationImpaired
InterpretsAdaptation behavior
Has interpretationAbsent
InterpretsMovement observable
Has interpretationAbnormally low
InterpretsMuscle tone
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetG31.8
RuleTRUE
AdviceALWAYS G31.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified