cystinurie type 1
genetische verstandelijke beperking
hereditaire ontwikkelingsstoornis
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atypisch syndroom van hypotonie en cystinurie (aandoening)
atypisch syndroom van hypotonie en cystinurie
atypische HCS
Atypical hypotonia cystinuria syndrome
A form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).
Id778025006
StatusPrimitive
Has interpretationafwijkend laag
Interpretsspiertonus
Finding sitestructuur van nier
Finding sitestructuur van skeletspier
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map238523
SNOMED CT to ICD-10 extended map
TargetE72.0
RuleTRUE
AdviceALWAYS E72.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified