| syndroom van obesitas, colitis, hypothyreoïdie, cardiale hypertrofie en ontwikkelingsachterstand (aandoening) | | syndroom van obesitas, colitis, hypothyreoïdie, cardiale hypertrofie en ontwikkelingsachterstand | | syndroom van obesitas, colitis, hypothyroïdie, cardiale hypertrofie en ontwikkelingsachterstand
| | Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome | | Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. |
| | Id | 722051004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 88643 |
| SNOMED CT to ICD-10 extended map | | Target | E03.8 | | Rule | TRUE | | Advice | ALWAYS E03.8 | 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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