Autosomal recessive hereditary disorder	Cleft mandible	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Multiple malformation syndrome with facial-limb defects as major feature	Robin sequence
\|	\|	\|	\|	\|	\|

Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
	Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome
	Robin sequence with cleft mandible and limb anomalies syndrome Richieri Costa Pereira syndrome
	Syndrome with characteristics of short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs) and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and highly arched palate was also observed. Transmission is autosomal recessive. There is evidence this syndrome is caused by homozygous or compound heterozygous mutation in the EIF4A3 gene on chromosome 17q25.
	syndroom van kleine gestalte, Pierre Robin-sequentie, gespleten onderkaak, misvormingen van hand en klompvoet
	syndroom van Richieri Costa-Pereira

Id	723998001
Status	Primitive

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

Associated morphology	Developmental failure of fusion
Finding site	Bone structure of mandible
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 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified