| 6q-terminale-deletiesyndroom (aandoening) | | 6q-terminale-deletiesyndroom | | 6q-deletie | | Aangeboren chromosoomafwijkingen waarbij een stukje chromosoom op de lange arm van chromosoom 6 ontbreekt, waardoor er in meer of mindere mate sprake is van een vertraagde lichamelijke en verstandelijke ontwikkeling, gehoorproblemen en spierslapte. | | 6q terminal deletion syndrome | | Syndrome marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations. Isolated terminal 6q deletion syndrome is very rare with less than 20 cases being reported in the literature. The most frequent craniofacial anomalies include microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set and a characteristic downturned mouth. The most commonly described neurological features are psychomotor retardation, hypotonia and seizures. Retinal anomalies are also common. The breakpoints are located between chromosome regions 6q25.3 and 6q26, within the fragile site FRA6E. |
| | Id | 719666002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q93.5 | | Term | Overige deleties van deel van chromosoom |
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| SNOMED CT to Orphanet simple map | 75857 |
| SNOMED CT to ICD-10 extended map | | Target | Q93.5 | | Rule | TRUE | | Advice | ALWAYS Q93.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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