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721010003: syndrome cardiomélique type 2 (trouble)


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
3323028013 Heart-hand syndrome type 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323029017 Heart-hand syndrome type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323030010 Atriodigital dysplasia type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323031014 Tabatznik syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
756831000241111 syndrome cardiomélique type 2 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
894071000172111 syndrome cardiomélique type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
948731000172119 dysplasie atrio-digitale type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3323032019 An extremely rare type of heart-hand syndrome. Described in two families to date, with characteristics of upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Heart-hand syndrome type 2 (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Heart-hand syndrome type 2 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Heart-hand syndrome type 2 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Heart-hand syndrome type 2 (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Heart-hand syndrome type 2 (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Heart-hand syndrome type 2 (disorder) localisation d'une constatation (attribut) Bone structure of upper limb (body structure) true Inferred relationship Some 1
Heart-hand syndrome type 2 (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Heart-hand syndrome type 2 (disorder) est un(e) (attribut) maladie cardiaque congénitale true Inferred relationship Some
Heart-hand syndrome type 2 (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Heart-hand syndrome type 2 (disorder) est un(e) (attribut) Congenital anomaly of upper limb true Inferred relationship Some
Heart-hand syndrome type 2 (disorder) est un(e) (attribut) Dysostosis true Inferred relationship Some
Heart-hand syndrome type 2 (disorder) est un(e) (attribut) Finding of bone of upper limb true Inferred relationship Some
Heart-hand syndrome type 2 (disorder) est un(e) (attribut) Cardiac arrhythmia (disorder) true Inferred relationship Some
Heart-hand syndrome type 2 (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Heart-hand syndrome type 2 (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Heart-hand syndrome type 2 (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
Heart-hand syndrome type 2 (disorder) localisation d'une constatation (attribut) cœur true Inferred relationship Some 2
Heart-hand syndrome type 2 (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 3
Heart-hand syndrome type 2 (disorder) localisation d'une constatation (attribut) Bone structure of upper limb (body structure) false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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