| syndroom van luxatie van beide heupen en caput radii, kleine gestalte, scoliose, fusie van os carpi, pes cavus en faciale dysmorfie (aandoening) | | syndroom van luxatie van beide heupen en caput radii, kleine gestalte, scoliose, fusie van os carpi, pes cavus en faciale dysmorfie | | syndroom van luxatie van linker en rechter heup en radiuskop, dwerggroei, scoliose, fusie van handwortelbeen, holvoet en faciale dysmorfie
Steel-syndroom
| | Steel syndrome | | Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome
| | A rare genetic bone disease with characteristics of short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described. Caused by homozygous or compound heterozygous mutation in the COL27A1 gene on chromosome 9q32. |
| | Id | 1197589000 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 438117 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.5 | | Rule | TRUE | | Advice | ALWAYS Q87.5 | 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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