| kleine gestalte door deficiëntie van 'signal transducer and activator of transcription 5B' (aandoening) | | kleine gestalte door deficiëntie van 'signal transducer and activator of transcription 5B' | | syndroom van Laron met immuundeficiëntie
Laron-achtig syndroom
kleine gestalte door STAT5b-deficiëntie
| | Laron syndrome with immunodeficiency | | Laron-like syndrome
Short stature due to STAT5b (signal transducer and activator of transcription 5b) deficiency
| | This syndrome has characteristics of severe growth retardation associated with immunodeficiency. Less than 10 cases have been described in literature. Individuals present with typical clinical and biochemical features of Laron syndrome such as post-natal growth retardation, delayed bone age and facial dysmorphism (prominent forehead, hypoplastic nasal bridge), and low serum IGF-1 concentrations with normal or high GH concentrations. Immunodeficiency has manifestations of moderate lymphopenia which leads to recurrent infections of the skin and respiratory tract. The syndrome is due to mutation in the signal transducer and activator of transcription 5b gene (STAT5b). Transmission is autosomal recessive. |
| | Id | 724179008 | | 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 |
| Target | E34.3 | | Term | Kleine gestalte, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 220465 |
| 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 |
| Target | E34.3 | | Rule | TRUE | | Advice | ALWAYS E34.3 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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