Autosomal dominant hereditary disorder
Congenital cleft hand
Congenital malformation of the urinary system
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
Hereditary disorder of nervous system
Hereditary disorder of the urinary system
Multiple malformation syndrome with limb defect as major feature
Spina bifida
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Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder)
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome
Czeizel Losonci syndrome
Split hand, urinary anomalies, spina bifida syndrome
An exceedingly rare severe congenital genetic malformation disorder with characteristics of split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia and radial defects. There have been no further descriptions in the literature since 1987.
syndroom van gespleten hand, obstructie van urinewegen, spina bifida en diafragmadefect
syndroom van gespleten hand, obstructieve uropathie, spina bifida en diafragmadefect
syndroom van Czeizel-Losonci
Id732927000
StatusPrimitive
Associated morphologyDevelopmental failure of fusion
Finding siteHand structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAbsence
Finding siteEntire finger
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteNeural tube structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteUrinary system structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDevelopmental failure of fusion
Finding siteStructure of arch of vertebra
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