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Splenogonadal fusion, limb defect, micrognathia syndrome (disorder)
Splenogonadal fusion, limb defect, micrognathia syndrome
Splenogonadal fusion limb defect syndrome
SGFLD (splenogonadal fusion limb defect syndrome) syndrome
A rare dysostosis syndrome with characteristics of abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It may also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.
syndroom van splenogonadale fusie, defect van extremiteit en micrognathie
SGFLD-syndroom
Id726724005
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyCongenital abnormal fusion
Finding siteGonadal structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyHypoplasia
Finding siteBone structure of mandible
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAbnormally short growth
Finding siteEntire limb
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyCongenital abnormal fusion
Finding siteSplenic structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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