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

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of the hand\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of the hand\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of the hand\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder)
\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 (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of the hand\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of the hand\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder)
\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 (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of the hand\Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder)

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

\Cardiovascular finding\Disorder of cardiovascular system (disorder)\...

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

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3331167016 Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

3888151000052112 syndrom med kvarstående ductus arteriosus, bikuspidal aortaklaff och handanomali sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331167016	Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3888151000052112	syndrom med kvarstående ductus arteriosus, bikuspidal aortaklaff och handanomali	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)