| kleine gestalte door primaire zuurlabiele subunitdeficiëntie (aandoening) | | kleine gestalte door primaire zuurlabiele subunitdeficiëntie | | kleine gestalte door primaire 'acid-labile subunit'-deficiëntie
| | Short stature due to primary acid labile subunit deficiency | | Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. |
| | Id | 721074002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E34.3 | | Term | Kleine gestalte, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 140941 |
| SNOMED CT to ICD-10 extended map | | Target | E34.3 | | Rule | TRUE | | Advice | ALWAYS E34.3 | 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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