Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder) | | MMEP syndrome | | Syndromic microphthalmia type 8 Viljoen Smart syndrome Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
| | A congenital syndromic form of split-hand/foot malformation with features of microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP. | | syndroom van microcefalie, microftalmie, ectrodactylie van onderste extremiteiten en prognathie |
| Id | 715533002 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | Target | Q87.8 | Rule | TRUE | Advice | ALWAYS Q87.8 | Correlation | SNOMED CT source code to target map code correlation not specified |
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