| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome (disorder) | | Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | | A rare multiple congenital anomalies with intellectual disability syndrome with characteristics of 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. | | syndroom van ernstige groeiachterstand, strabismus, uitgebreide dermale melanocytose en verstandelijke beperking | | syndroom van ernstige groeiachterstand, scheelzien, uitgebreide dermale melanose en mentale retardatie
syndroom van ernstige groeiachterstand, strabisme, uitgebreide mongolenvlekken en verstandelijke handicap
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| | Id | 1172629005 | | Status | Primitive |
| ICD-10 complex map reference set | | 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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