Autosomal recessive hereditary disorder	Developmental hereditary disorder	Multiple malformation syndrome with facial-limb defects as major feature
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Acrocephalopolydactyly (disorder)
	Acrocephalopolydactyly
	Acrocephalopolydactylous dysplasia Elejalde syndrome
	An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism, excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.
	acrocefalopolydactylie
	acrocefalopolydactyleuze dysplasie syndroom van Elejalde Elejalde-syndroom

Id	720417003
Status	Primitive

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

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

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified