722211006: Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Finding of bone in hand\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of bone in hand\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome

\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome

\Cardiovascular finding\Cardiovascular disease\...

\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome

\Cardiovascular system hereditary disorder\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome

\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Finding of bone in hand\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3331166013 Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3331167016 Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome en Synonym Active Case insensitive SNOMED CT core

3331168014 A very rare heart-hand syndrome that has characteristics of a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant although X-linked dominance could not be excluded. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	Finding site	Bone structure of hand	true	Inferred relationship	Some	1
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	Is a	Congenital anomaly of hand	true	Inferred relationship	Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	Is a	Dysostosis	true	Inferred relationship	Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	Is a	Finding of bone in hand	true	Inferred relationship	Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	Is a	Congenital anomaly of cardiovascular structure of trunk	true	Inferred relationship	Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	Finding site	Cardiovascular structure of trunk	true	Inferred relationship	Some	2
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	Finding site	Bone structure of hand	false	Inferred relationship	Some	2
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	Finding site	Cardiovascular structure of trunk	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3331166013	Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3331167016	Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3331168014	A very rare heart-hand syndrome that has characteristics of a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant although X-linked dominance could not be excluded.	en	Definition	Active	Case sensitive	SNOMED CT core