| 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. Less than 10 cases have been reported in the literature so far. It is caused by homozygous inactivating mutations of the ALS gene (IGFALS; 16p13.3). Primary ALS deficiency is inherited in an autosomal recessive manner. |
| | 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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