Autosomal recessive hereditary disorder	Developmental hereditary disorder	Holoprosencephaly sequence	Multiple malformation syndrome with facial defects as major feature	Polydactyly
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Holoprosencephaly and postaxial polydactyly syndrome (disorder)
	Holoprosencephaly and postaxial polydactyly syndrome
	Pseudotrisomy 13 syndrome
	Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. Incidence is unknown. Dysmorphic features include hypotelorism, severe eye anomalies such as microphthalmia or anophthalmia, premaxillary region aplasia and cleft lip and palate. Congenital cardiac anomalies are common. The condition seems to be inherited as an autosomal recessive trait. Prognosis is poor.
	syndroom van holoprosencefalie en postaxiale polydactylie
	pseudotrisomie-13-syndroom

Id	716091000
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Supernumerary structure
Finding site	Digit structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8
Correlation	SNOMED CT source code to target map code correlation not specified