| cono-spondylar dysplasia (aandoening) | | cono-spondylar dysplasia | | cono-spondylaire dysplasie
syndroom van kleine gestalte, kyfose, hypoplasie van ala ossis ilii, kegelvormige epifyse en faciale dysmorfie
| | Cono-spondylar dysplasia | | Short stature, kyphosis, hypoplasia of basal ilia-cone epiphyses, facial dysmorphism syndrome
| | Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (including long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies. |
| | Id | 766874001 | | Status | Primitive |
| SNOMED CT to Orphanet simple map |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q77.7 | | Term | Spondylo-epifysaire dysplasie |
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| SNOMED CT to ICD-10 extended map | | Target | Q77.7 | | Rule | TRUE | | Advice | ALWAYS Q77.7 | 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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