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. |
| Id | 726669007 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | G96.8 | Term | Overige gespecificeerde aandoeningen van centraal zenuwstelsel |
Target | H91.9 | Term | Gehoorverlies, niet gespecificeerd |
Target | D64.9 | Term | Anemie, niet gespecificeerd |
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SNOMED CT to Orphanet simple map | 3240 |
SNOMED CT to ICD-10 extended map | Target | G93.8 | Rule | TRUE | Advice | ALWAYS G93.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | G95.8 | Rule | TRUE | Advice | ALWAYS G95.8 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | R62.8 | Rule | TRUE | Advice | ALWAYS R62.8 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | H91.9 | Rule | TRUE | Advice | ALWAYS H91.9 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | D64.9 | Rule | TRUE | Advice | ALWAYS D64.9 | Correlation | SNOMED CT source code to target map code correlation not specified |
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