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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.
Id733038005
StatusPrimitive
Associated morphologydeformiteit
Finding sitebotstructuur van sternum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydeformiteit
Finding sitebotstructuur van costa
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map2104
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified