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19092004: Holt-Oram syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\Viscus structure finding (finding)\constatation cardiaque\cardiopathie (trouble)\...

\Cardiac arrhythmia (disorder)\syndrome de Holt-Oram

\atteinte de la structure du cœur\maladie cardiaque congénitale\syndrome de Holt-Oram

\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\syndrome de Holt-Oram
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\syndrome de Holt-Oram
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of bone of upper limb\syndrome de Holt-Oram
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\syndrome de Holt-Oram

\constatation cardiovasculaire\constatation cardiaque\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\syndrome de Holt-Oram
\constatation cardiovasculaire\constatation cardiaque\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\syndrome de Holt-Oram
\constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\syndrome de Holt-Oram
\constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\syndrome de Holt-Oram
\constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\syndrome de Holt-Oram
\constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\syndrome de Holt-Oram

\Musculoskeletal finding\constatation à propos de l'os\Finding of bone of upper limb\syndrome de Holt-Oram
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\syndrome de Holt-Oram
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\syndrome de Holt-Oram
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\syndrome de Holt-Oram
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\syndrome de Holt-Oram
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\syndrome de Holt-Oram
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\syndrome de Holt-Oram

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\syndrome de Holt-Oram
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Cardiovascular system hereditary disorder\syndrome de Holt-Oram
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\syndrome de Holt-Oram
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\syndrome de Holt-Oram
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\syndrome de Holt-Oram
\Disease\affection d'un système corporel\Hereditary disorder by system\Cardiovascular system hereditary disorder\syndrome de Holt-Oram
\Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\syndrome de Holt-Oram
\Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\syndrome de Holt-Oram
\Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\syndrome de Holt-Oram
\Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\syndrome de Holt-Oram
\Disease\affection d'un système corporel\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\syndrome de Holt-Oram
\Disease\affection d'un système corporel\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\syndrome de Holt-Oram
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\syndrome de Holt-Oram
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\syndrome de Holt-Oram
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\syndrome de Holt-Oram
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\syndrome de Holt-Oram
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\syndrome de Holt-Oram
\Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\syndrome de Holt-Oram
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\syndrome de Holt-Oram
\Disease\affection du tronc\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\syndrome de Holt-Oram
\Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\maladie cardiaque congénitale\syndrome de Holt-Oram
\Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\Cardiac arrhythmia (disorder)\syndrome de Holt-Oram
\Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\syndrome de Holt-Oram
\Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\syndrome de Holt-Oram
\Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\syndrome de Holt-Oram
\Disease\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\syndrome de Holt-Oram
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\syndrome de Holt-Oram
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\syndrome de Holt-Oram
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\syndrome de Holt-Oram
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\syndrome de Holt-Oram
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\syndrome de Holt-Oram
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\syndrome de Holt-Oram
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\syndrome de Holt-Oram
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\syndrome de Holt-Oram
\Disease\trouble du développement\Developmental hereditary disorder\syndrome de Holt-Oram
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\syndrome de Holt-Oram
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\syndrome de Holt-Oram
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\syndrome de Holt-Oram
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\syndrome de Holt-Oram
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\syndrome de Holt-Oram
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\syndrome de Holt-Oram
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\syndrome de Holt-Oram

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
syndrome de Holt-Oram	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
syndrome de Holt-Oram	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
syndrome de Holt-Oram	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
syndrome de Holt-Oram	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
syndrome de Holt-Oram	est un(e) (attribut)	atteinte de la structure du cœur	false	Inferred relationship	Some
syndrome de Holt-Oram	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
syndrome de Holt-Oram	localisation d'une constatation (attribut)	structure d'un membre	false	Inferred relationship	Some	1
syndrome de Holt-Oram	localisation d'une constatation (attribut)	Cardiac structure	false	Inferred relationship	Some
syndrome de Holt-Oram	est un(e) (attribut)	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
syndrome de Holt-Oram	est un(e) (attribut)	Congenital anomaly of limb	false	Inferred relationship	Some
syndrome de Holt-Oram	localisation d'une constatation (attribut)	cœur	false	Inferred relationship	Some	2
syndrome de Holt-Oram	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some	1
syndrome de Holt-Oram	localisation d'une constatation (attribut)	Cardiac structure	false	Inferred relationship	Some
syndrome de Holt-Oram	morphologie associée (attribut)	Mechanical abnormality	false	Inferred relationship	Some	2
syndrome de Holt-Oram	est un(e) (attribut)	maladie cardiaque congénitale	false	Inferred relationship	Some
syndrome de Holt-Oram	localisation d'une constatation (attribut)	cœur	true	Inferred relationship	Some	2
syndrome de Holt-Oram	morphologie associée (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some	2
syndrome de Holt-Oram	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	2
syndrome de Holt-Oram	localisation d'une constatation (attribut)	structure d'un membre	false	Inferred relationship	Some	1
syndrome de Holt-Oram	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some	1
syndrome de Holt-Oram	survenue (attribut)	congénital	false	Inferred relationship	Some	3
syndrome de Holt-Oram	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	3
syndrome de Holt-Oram	survenue (attribut)	congénital	false	Inferred relationship	Some	4
syndrome de Holt-Oram	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	4
syndrome de Holt-Oram	localisation d'une constatation (attribut)	structure d'un membre	false	Inferred relationship	Some	4
syndrome de Holt-Oram	est un(e) (attribut)	maladie cardiaque congénitale	true	Inferred relationship	Some
syndrome de Holt-Oram	localisation d'une constatation (attribut)	cœur	false	Inferred relationship	Some	3
syndrome de Holt-Oram	survenue (attribut)	congénital	true	Inferred relationship	Some	2
syndrome de Holt-Oram	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
syndrome de Holt-Oram	est un(e) (attribut)	Congenital anomaly of upper limb	true	Inferred relationship	Some
syndrome de Holt-Oram	est un(e) (attribut)	Dysostosis	true	Inferred relationship	Some
syndrome de Holt-Oram	est un(e) (attribut)	Finding of bone of upper limb	true	Inferred relationship	Some
syndrome de Holt-Oram	est un(e) (attribut)	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
syndrome de Holt-Oram	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
syndrome de Holt-Oram	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
syndrome de Holt-Oram	est un(e) (attribut)	Cardiac arrhythmia (disorder)	true	Inferred relationship	Some
syndrome de Holt-Oram	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
syndrome de Holt-Oram	survenue (attribut)	congénital	true	Inferred relationship	Some	1
syndrome de Holt-Oram	localisation d'une constatation (attribut)	Bone structure of upper limb (body structure)	true	Inferred relationship	Some	1
syndrome de Holt-Oram	localisation d'une constatation (attribut)	Musculoskeletal structure of limb	false	Inferred relationship	Some
syndrome de Holt-Oram	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some
syndrome de Holt-Oram	survenue (attribut)	congénital	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
1006391000172117	syndrome de Holt-Oram	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
2923360019	Holt Oram syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
32179011	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
402521000241112	syndrome de Holt-Oram (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
746856019	Holt-Oram syndrome (disorder)	en	Fully specified name	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 Common French translation module (core metadata concept)
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