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Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
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.
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
Id726669007
StatusPrimitive
Has interpretationBelow reference range
InterpretsRed blood cell count
InterpretsHearing
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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