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syndroom van holoprosencefalie, ectrodactylie en cheilopalatoschisis (aandoening)
syndroom van holoprosencefalie, ectrodactylie en cheilopalatoschisis
syndroom van holoprosencefalie, ectrodactylie, gespleten gehemelte en gespleten lip
syndroom van Hartsfield
Hartsfield syndrome
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
Hartsfield Bixler Demyer syndrome
A rare disease with characteristics of holoprosencephaly and ectrodactyly. Holoprosencephaly occurs during early fetal development with failure of the brain to divide into the left and right hemisphere. In the most severe forms of holoprosencephaly, the brain does not divide at all. These affected individuals have cyclopia and proboscis located above the eye. Most babies with severe holoprosencephaly die before birth or soon after. Other manifestations include malfunctioning pituitary, seizures, feeding difficulties, developmental delay and problems regulating body temperature and sleep pattern. Some affected individuals have distinctive facial features, including hypertelorism, hypotelorism, cleft lip, cleft palate. Can be caused by mutations in the FGFR1 gene.
Id766032007
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyafwezigheid
Finding sitegehele digitus van hand of voet
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
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