| syndroom van alaninurie, microcefalie, dwerggroei, hypoplasie van tandglazuur en diabetes mellitus (aandoening) | | syndroom van alaninurie, microcefalie, dwerggroei, hypoplasie van tandglazuur en diabetes mellitus | | syndroom van Stimmler
| | Stimmler syndrome | | Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome
| | Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. |
| | Id | 733072002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 3199 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.1 | | Rule | TRUE | | Advice | ALWAYS Q87.1 | 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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