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19092004: Holt-Oram syndrome (disorder)

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

\Viscus structure finding (finding)\Cardiac finding\Heart disease\...

\Cardiac arrhythmia (disorder)\Holt-Oram syndrome

\Structural disorder of heart\Congenital heart disease\Holt-Oram syndrome

\Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Holt-Oram syndrome
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Holt-Oram syndrome
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Holt-Oram syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Holt-Oram syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac arrhythmia (disorder)\Holt-Oram syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Holt-Oram syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Holt-Oram syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Holt-Oram syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Holt-Oram syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Holt-Oram syndrome

\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Holt-Oram syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Holt-Oram syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Holt-Oram syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Holt-Oram syndrome
\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\Holt-Oram syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Holt-Oram syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Holt-Oram syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Holt-Oram syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Holt-Oram syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Holt-Oram syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Holt-Oram syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Holt-Oram syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Holt-Oram syndrome
\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\Congenital heart disease\Holt-Oram syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Holt-Oram syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Holt-Oram syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Holt-Oram syndrome
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Holt-Oram syndrome
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Holt-Oram syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Holt-Oram syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Holt-Oram syndrome
\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\Holt-Oram syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Holt-Oram syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Holt-Oram syndrome
\Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Holt-Oram syndrome
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Holt-Oram syndrome
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Holt-Oram syndrome
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Holt-Oram syndrome
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac arrhythmia (disorder)\Holt-Oram syndrome
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Holt-Oram syndrome
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Holt-Oram syndrome
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Holt-Oram syndrome
\Disease\Congenital disease (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Holt-Oram syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Holt-Oram syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Holt-Oram syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Holt-Oram syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Holt-Oram syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Holt-Oram syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Holt-Oram syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Holt-Oram syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Holt-Oram syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Holt-Oram syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Holt-Oram syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Holt-Oram syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Holt-Oram syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Holt-Oram syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Holt-Oram syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Holt-Oram syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Holt-Oram syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

32179011 Holt-Oram syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

746856019 Holt-Oram syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

2923360019 Holt Oram syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3323026012 Heart-hand syndrome type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323027015 Atriodigital dysplasia type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323037013 Holt-Oram syndrome is the most common form of heart-hand syndrome with characteristics of skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. The clinical picture of covers a wide spectrum of upper extremity defects, always including the radial ray, and cardiac defects. Caused by a mutation in the TBX5 gene located on the long arm of chromosome 12 (12q24.1). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

979781000172110 dysplasie atrio-digitale type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1006391000172117 syndrome de Holt-Oram fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Holt-Oram syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Holt-Oram syndrome	Is a	Congenital anomaly of limb	false	Inferred relationship	Some
Holt-Oram syndrome	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
Holt-Oram syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Some
Holt-Oram syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Holt-Oram syndrome	Is a	Structural disorder of heart	false	Inferred relationship	Some
Holt-Oram syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Holt-Oram syndrome	Finding site	Limb structure	false	Inferred relationship	Some	1
Holt-Oram syndrome	Finding site	Cardiac structure	false	Inferred relationship	Some
Holt-Oram syndrome	Finding site	Heart structure	false	Inferred relationship	Some	2
Holt-Oram syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Holt-Oram syndrome	Finding site	Cardiac structure	false	Inferred relationship	Some
Holt-Oram syndrome	Associated morphology	Mechanical abnormality	false	Inferred relationship	Some	2
Holt-Oram syndrome	Is a	Congenital heart disease	false	Inferred relationship	Some
Holt-Oram syndrome	Finding site	Heart structure	true	Inferred relationship	Some	2
Holt-Oram syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	2
Holt-Oram syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Holt-Oram syndrome	Finding site	Limb structure	false	Inferred relationship	Some	1
Holt-Oram syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Holt-Oram syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Holt-Oram syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Holt-Oram syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Holt-Oram syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Some	4
Holt-Oram syndrome	Finding site	Limb structure	false	Inferred relationship	Some	4
Holt-Oram syndrome	Is a	Congenital heart disease	true	Inferred relationship	Some
Holt-Oram syndrome	Finding site	Heart structure	false	Inferred relationship	Some	3
Holt-Oram syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Holt-Oram syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Holt-Oram syndrome	Is a	Congenital anomaly of upper limb	true	Inferred relationship	Some
Holt-Oram syndrome	Is a	Dysostosis	true	Inferred relationship	Some
Holt-Oram syndrome	Is a	Finding of bone of upper limb	true	Inferred relationship	Some
Holt-Oram syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Holt-Oram syndrome	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Holt-Oram syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Holt-Oram syndrome	Is a	Cardiac arrhythmia (disorder)	true	Inferred relationship	Some
Holt-Oram syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Holt-Oram syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Holt-Oram syndrome	Finding site	Bone structure of upper limb (body structure)	true	Inferred relationship	Some	1
Holt-Oram syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Holt-Oram syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Holt-Oram syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Holt-Oram syndrome	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

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Id	Description	Lang	Type	Status	Case?	Module
32179011	Holt-Oram syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
746856019	Holt-Oram syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2923360019	Holt Oram syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3323026012	Heart-hand syndrome type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323027015	Atriodigital dysplasia type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323037013	Holt-Oram syndrome is the most common form of heart-hand syndrome with characteristics of skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. The clinical picture of covers a wide spectrum of upper extremity defects, always including the radial ray, and cardiac defects. Caused by a mutation in the TBX5 gene located on the long arm of chromosome 12 (12q24.1).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
979781000172110	dysplasie atrio-digitale type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1006391000172117	syndrome de Holt-Oram	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module