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Holoprosencephaly with caudal dysgenesis syndrome (disorder)
Holoprosencephaly with caudal dysgenesis syndrome
A central nervous system malformation syndrome with characteristics of holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).
syndroom van holoprosencefalie met caudale dysgenesie
Id771146007
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteHead structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ04.2
RuleTRUE
AdviceALWAYS Q04.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified