| syndroom van ernstige groeiachterstand, strabismus, uitgebreide dermale melanocytose en verstandelijke beperking (aandoening) | | syndroom van ernstige groeiachterstand, strabismus, uitgebreide dermale melanocytose en verstandelijke beperking | | syndroom van ernstige groeiachterstand, strabisme, uitgebreide mongolenvlekken en verstandelijke handicap
syndroom van ernstige groeiachterstand, scheelzien, uitgebreide dermale melanose en mentale retardatie
| | Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | | A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts. |
| | Id | 1172629005 | | 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 | 488627 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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