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Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)
Microcephalus with cardiac defect and lung malsegmentation syndrome
Ellis Yale Winter syndrome
Microcephaly with cardiac defect and lung malsegmentation syndrome
A very rare syndrome with the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. It has been described in three female siblings. Dysmorphic features were not characteristic. The condition seems to be hereditary, and transmitted as an autosomal recessive trait. Prognosis is poor and all children died in infancy.
syndroom van microcefalie, hartdefect en longmalsegmentatie
syndroom van Ellis-Yale-Winter
Id719379001
StatusPrimitive
Associated morphologyCongenital smallness
Finding siteHead structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteLung structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteHeart 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