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syndroom van calcificatie van centraal zenuwstelsel, doofheid, tubulaire acidose en anemie (aandoening)
syndroom van calcificatie van centraal zenuwstelsel, doofheid, tubulaire acidose en anemie
Yoshimura-Takeshita-syndroom
syndroom van Yoshimura-Takeshita
syndroom van verkalking van centraal zenuwstelsel, doofheid, tubulaire acidose en bloedarmoede
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
Yoshimura Takeshita syndrome
This syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.
Id726669007
StatusPrimitive
Interpretsgehoorfunctie
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG96.8
TermOverige gespecificeerde aandoeningen van centraal zenuwstelsel
TargetH91.9
TermGehoorverlies, niet gespecificeerd
TargetD64.9
TermAnemie, niet gespecificeerd
SNOMED CT to Orphanet simple map3240
SNOMED CT to ICD-10 extended map
TargetG96.8
RuleTRUE
AdviceALWAYS G96.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH91.9
RuleTRUE
AdviceALWAYS H91.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetD64.9
RuleTRUE
AdviceALWAYS D64.9
CorrelationSNOMED CT source code to target map code correlation not specified