| syndroom van algehele ontwikkelingsachterstand, longcysten, overgroei en nefroblastoom (aandoening) | | syndroom van algehele ontwikkelingsachterstand, longcysten, overgroei en nefroblastoom | | syndroom van algehele ontwikkelingsachterstand, longcysten, overgroei en Wilms-tumor
| | Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome | | GLOW (global developmental delay, lung cysts, overgrowth, Wilms tumor) syndrome
GLOW syndrome
| | A rare genetic overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior. |
| | Id | 782722002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.3 | | Term | Congenitale gestoorde-ontwikkelingssyndromen met vroege versterkte groei |
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| SNOMED CT to Orphanet simple map | 404476 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.3 | | Rule | TRUE | | Advice | ALWAYS Q87.3 | 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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