syndroom van dysmorfie, pectus carinatum en gewrichtslaxiteit (aandoening) | | syndroom van dysmorfie, pectus carinatum en gewrichtslaxiteit | | Guízar-Vázquez-Sánchez-Manzano-syndroom syndroom van Guízar-Vázquez-Sánchez-Manzano
| | Dysmorphism, pectus carinatum, joint laxity syndrome | | Guízar Vázquez Sánchez Manzano syndrome
| | Syndrome with characteristics of joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. |
| Id | 733038005 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q87.8 | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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SNOMED CT to Orphanet simple map | 2104 |
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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