| primair immunodeficiëntiesyndroom door p14-deficiëntie (aandoening) | | primair immunodeficiëntiesyndroom door p14-deficiëntie | | primair immunodeficiëntiesyndroom met kleine gestalte
primair immuundeficiëntiesyndroom door LAMTOR2-deficiëntie
| | Primary immunodeficiency syndrome due to p14 deficiency | | Primary immunodeficiency syndrome with short stature
| | Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections. |
| | Id | 718717004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D82.8 | | Term | Immunodeficiëntie samengaand met andere gespecificeerde belangrijke defecten |
|
| SNOMED CT to Orphanet simple map | 90023 |
| SNOMED CT to ICD-10 extended map | | Target | D82.8 | | Rule | TRUE | | Advice | ALWAYS D82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
