cystinurie type 1
hereditaire ontwikkelingsstoornis
verstandelijke beperking
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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 with characteristics of 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
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
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE72.0
TermStoornissen van aminozuurtransport
SNOMED CT to Orphanet simple map238523
SNOMED CT to ICD-10 extended map
TargetE72.0
RuleTRUE
AdviceALWAYS E72.0
CorrelationSNOMED CT source code to target map code correlation not specified