syndroom van aniridie, agenesie van nier en psychomotorische retardatie (aandoening) | | syndroom van aniridie, agenesie van nier en psychomotorische retardatie | | syndroom van Sommer-Rathbun-Battles
| | Aniridia, renal agenesis, psychomotor retardation syndrome | | Sommer Rathbun Battles syndrome
| | An extremely rare syndrome reported in two siblings of non-consanguineous parents with the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. |
| Id | 733116005 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
SNOMED CT to Orphanet simple map | 1064 |
SNOMED CT to ICD-10 extended map | Target | Q87.8 | Rule | TRUE | Advice | ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
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