syndroom van aniridie en verstandelijke beperking (aandoening) | | syndroom van aniridie en verstandelijke beperking | | syndroom van aniridie en verstandelijke handicap syndroom van aniridie en mentale retardatie syndroom van Walker-Dyson
| | Aniridia and intellectual disability syndrome | | An extremely rare autosomal dominant developmental defect of the eye described in several members of one family with characteristics of the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974. |
| Id | 720468000 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q13.1 | Term | Ontbreken van iris |
Target | F79.9 | Term | Niet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen |
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SNOMED CT to Orphanet simple map | 1068 |
SNOMED CT to ICD-10 extended map | Target | Q13.1 | Rule | TRUE | Advice | ALWAYS Q13.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | F79.9 | Rule | TRUE | Advice | ALWAYS F79.9 | Correlation | SNOMED CT source code to target map code correlation not specified |
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