| syndroom van aplastische anemie, verstandelijke beperking en dwerggroei (aandoening) | | syndroom van aplastische anemie, verstandelijke beperking en dwerggroei | | AMeD-syndroom
syndroom van aplastische anemie, mentale retardatie en dwerggroei
syndroom van aplastische anemie, verstandelijke handicap en dwerggroei
| | AMeD syndrome | | Aplastic anemia, intellectual disability, dwarfism syndrome
AMeD (aplastic anemia, intellectual disability, dwarfism) syndrome
| | A rare constitutional aplastic anemia characterized by aplastic anemia, intellectual disability, short stature, and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioral problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukemia. |
| | Id | 1332385000 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | D61.0 | | Rule | TRUE | | Advice | ALWAYS D61.0 | 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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