| syndroom van ontwikkelingsachterstand, immunodeficiëntie, leukencefalopathie en hypohomocysteïnemie (aandoening) | | syndroom van ontwikkelingsachterstand, immunodeficiëntie, leukencefalopathie en hypohomocysteïnemie | | syndroom van ontwikkelingsachterstand, immuundeficiëntie, leuko-encefalopathie en hypohomocysteïnemie
| | Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome | | A rare syndrome with combined immunodeficiency characterized by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leukoencephalopathy, and hypohomocysteinemia. Additional clinical features may include heart defects. |
| | Id | 1340174002 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | E72.1 | | Rule | TRUE | | Advice | ALWAYS E72.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
