720419000: Acrofacial dysostosis Catania type (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\Acrofacial dysostosis Catania type
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\...
• \Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
• \Disorder of face\Lesion of face\Acrofacial dysostosis Catania type
• \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\Acrofacial dysostosis Catania type
• \Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
• \Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
• \Disorder of head\Disorder of face\Lesion of face\Acrofacial dysostosis Catania type
• \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\Acrofacial dysostosis Catania type
• \Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
• \Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
• \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\Acrofacial dysostosis Catania type
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
• \Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
• \Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
• \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\Acrofacial dysostosis Catania type
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Catania type
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Acrofacial dysostosis Catania type
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Acrofacial dysostosis Catania type
• \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\Acrofacial dysostosis Catania type
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Catania type
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Acrofacial dysostosis Catania type
• \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\Acrofacial dysostosis Catania type
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Catania type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrofacial dysostosis Catania type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Acrofacial dysostosis Catania type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrofacial dysostosis Catania type
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Acrofacial dysostosis Catania type
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Acrofacial dysostosis Catania type
• \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\Acrofacial dysostosis Catania type
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Catania type
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Acrofacial dysostosis Catania type
• \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\Acrofacial dysostosis Catania type
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Catania type
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Catania type
• \Disease\Disorder of head\Disorder of face\Lesion of face\Acrofacial dysostosis Catania type
• \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\Acrofacial dysostosis Catania type
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
• \Disease\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
• \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\Acrofacial dysostosis Catania type
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
• \Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
• \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\Acrofacial dysostosis Catania type
• \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\Acrofacial dysostosis Catania type
• \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\Acrofacial dysostosis Catania type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Acrofacial dysostosis Catania type
• \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\Acrofacial dysostosis Catania type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Catania type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Catania type
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Catania type
• \Disease\Developmental disorder\Developmental hereditary disorder\Acrofacial dysostosis Catania type
• \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\Acrofacial dysostosis Catania type
• \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\Acrofacial dysostosis Catania type
• \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\Acrofacial dysostosis Catania type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Acrofacial dysostosis Catania type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Acrofacial dysostosis Catania type
• \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\Acrofacial dysostosis Catania type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Acrofacial dysostosis Catania type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofacial dysostosis Catania type

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3320701011	Acrofacial dysostosis Catania type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3320702016	Acrofacial dysostosis Catania type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3320703014	Opitz Caltabiano syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3320704015	A very rare type of acrofacialdysostosis with characteristics of mild intrauterine growth retardation, postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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