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mucolipidose type 4 (aandoening)
mucolipidose type 4
Mucolipidosis type IV
A rare lysosomal storage disease characterized clinically by severe global development delay due to neuronal dysmyelination, hypotonia which gradually progresses to spasticity during childhood, speech deficits, progressive visual impairment (due to corneal clouding, retinal degeneration and optic atrophy), achlorhydria, with increased gastrin secretion and iron deficiency anemia, and kidney disease and failure, all in the absence of dysmorphic features.
Id725296006
StatusPrimitive
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map578
SNOMED CT to ICD-10 extended map
TargetE75.1
RuleTRUE
AdviceALWAYS E75.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified