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19092004: Holt-Oram syndrome (disorder)


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
5448797011 A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5448798018 A genetic syndrome with limb reduction defects characterised by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. en Definition 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
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
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
3432931001000114 Holt-Oram-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Is a Congenital anomaly of limb false Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Finding site Musculoskeletal structure of limb false Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Associated morphology anomalie du développement false Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Occurrence Congenital false Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Is a Structural disorder of heart (disorder) false Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Associated morphology anomalie congénitale false Inferred relationship Some 1
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Finding site Limb structure false Inferred relationship Some 1
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Finding site Cardiac structure false Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Finding site Heart structure false Inferred relationship Some 2
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Associated morphology Congenital malformation false Inferred relationship Some 1
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Finding site Cardiac structure false Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Associated morphology Mechanical abnormality false Inferred relationship Some 2
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Is a Congenital heart disease false Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Finding site Heart structure true Inferred relationship Some 2
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Associated morphology Morphologically abnormal structure false Inferred relationship Some 2
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Finding site Limb structure false Inferred relationship Some 1
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Associated morphology Congenital malformation false Inferred relationship Some 1
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Occurrence Congenital false Inferred relationship Some 3
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Associated morphology anomalie du développement false Inferred relationship Some 3
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Occurrence Congenital false Inferred relationship Some 4
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Associated morphology anomalie du développement false Inferred relationship Some 4
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Finding site Limb structure false Inferred relationship Some 4
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Is a Congenital heart disease true Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Finding site Heart structure false Inferred relationship Some 3
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Occurrence Congenital true Inferred relationship Some 2
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Is a Congenital anomaly of upper limb true Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Is a Dysostosis true Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Is a Finding of bone of upper limb true Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Is a Cardiovascular system hereditary disorder true Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Is a Connective tissue hereditary disorder false Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Is a A disorder in which there is abnormal electrical activity in the heart. true Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Associated morphology Congenital dysplasia false Inferred relationship Some 1
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Occurrence Congenital true Inferred relationship Some 1
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Finding site Bone structure of upper limb (body structure) true Inferred relationship Some 1
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Associated morphology Dysplasia true Inferred relationship Some 1
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Is a Developmental hereditary disorder true Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Is a Congenital dysplasia of limb (disorder) true Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Finding site Cardiac conducting system structure true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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