723998001: Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Richieri Costa Pereira syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Orofacial cleft\Cleft mandible\Richieri Costa Pereira syndrome
• \Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Finding of head region\Finding of face\Disorder of face\Lesion of face\Cleft mandible\Richieri Costa Pereira syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Richieri Costa Pereira syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Richieri Costa Pereira syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Finding of head region\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disorder of head\Disorder of face\Lesion of face\Cleft mandible\Richieri Costa Pereira syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Richieri Costa Pereira syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Richieri Costa Pereira syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft mandible\Richieri Costa Pereira syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Richieri Costa Pereira syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Richieri Costa Pereira syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disorder of head\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Richieri Costa Pereira syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Richieri Costa Pereira syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Richieri Costa Pereira syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Richieri Costa Pereira syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Richieri Costa Pereira syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Richieri Costa Pereira syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Richieri Costa Pereira syndrome
• \Disease\Disorder of head\Disorder of face\Lesion of face\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Richieri Costa Pereira syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Richieri Costa Pereira syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Richieri Costa Pereira syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Richieri Costa Pereira syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Disorder of head\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Richieri Costa Pereira syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Richieri Costa Pereira syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Richieri Costa Pereira syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Richieri Costa Pereira syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Richieri Costa Pereira syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Richieri Costa Pereira syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Richieri Costa Pereira syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Richieri Costa Pereira syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Richieri Costa Pereira syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Richieri Costa Pereira syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Richieri Costa Pereira syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Robin sequence\Richieri Costa Pereira syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Cleft mandible\Richieri Costa Pereira syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Richieri Costa Pereira syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3498174017	Robin sequence with cleft mandible and limb anomalies syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3498175016	Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3498176015	Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3498177012	Richieri Costa Pereira syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3499906011	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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