| syndroom van congenitale contractuur van extremiteiten en aangezicht, hypotonie en ontwikkelingsachterstand (aandoening) | | syndroom van congenitale contractuur van extremiteiten en aangezicht, hypotonie en ontwikkelingsachterstand | | syndroom van congenitale contractuur van extremiteiten en aangezicht, lage spiertonus en ontwikkelingsachterstand
CLIFAHDD-syndroom
syndroom van aangeboren contractuur van armen en/of benen en aangezicht, verlaagde spierspanning en ontwikkelingsachterstand
| | Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | | CLIFAHDD (congenital limbs, face contractures, hypotonia, developmental delay) syndrome
CLIFAHDD syndrome
| | A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability and with characteristics of severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases. |
| | Id | 1255322002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 562528 |
| 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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