| skeletdysplasie met korte ledematen en ernstige gecombineerde immunodeficiëntie (aandoening) | | skeletdysplasie met korte ledematen en ernstige gecombineerde immunodeficiëntie | | skeletdysplasie met korte ledematen en ernstige gecombineerde immuundeficiëntie
| | Short-limb skeletal dysplasia with severe combined immunodeficiency | | Immunodeficiency, short limb dwarfism syndrome
Achondroplasia, severe combined immunodeficiency syndrome
Achondroplasia-Swiss type agammaglobulinemia syndrome
| | An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. |
| | Id | 789777007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D82.2 | | Term | Immunodeficiëntie gepaard gaande met korte ledematen |
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| SNOMED CT to Orphanet simple map | 935 |
| SNOMED CT to ICD-10 extended map | | Target | D82.2 | | Rule | TRUE | | Advice | ALWAYS D82.2 | 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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