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721010003: Heart-hand syndrome type 2 (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
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
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
894071000172111 syndrome cardiomélique type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
948731000172119 dysplasie atrio-digitale type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
2077311000172118 syndrome cœur-membres type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
2077321000172111 dysplasie atriodigitale type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
2077331000172114 syndrome cœur-main type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
1004701000172118 hart-handsyndroom type 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
1017061000172112 atriodigitale dysplasie type 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
2077341000172119 syndroom van Tabatznik nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Heart-hand syndrome type 2 (disorder) Is a Congenital heart disease true Inferred relationship Some
Heart-hand syndrome type 2 (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Heart-hand syndrome type 2 (disorder) Is a Congenital anomaly of upper limb true Inferred relationship Some
Heart-hand syndrome type 2 (disorder) Is a Dysostosis true Inferred relationship Some
Heart-hand syndrome type 2 (disorder) Is a Finding of bone of upper limb true Inferred relationship Some
Heart-hand syndrome type 2 (disorder) Is a Cardiac arrhythmia (disorder) true Inferred relationship Some
Heart-hand syndrome type 2 (disorder) Occurrence Congenital true Inferred relationship Some 2
Heart-hand syndrome type 2 (disorder) Occurrence Congenital false Inferred relationship Some 3
Heart-hand syndrome type 2 (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 2
Heart-hand syndrome type 2 (disorder) Finding site Heart structure true Inferred relationship Some 2
Heart-hand syndrome type 2 (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Heart-hand syndrome type 2 (disorder) Finding site Bone structure of upper limb (body structure) false Inferred relationship Some 3
Heart-hand syndrome type 2 (disorder) Occurrence Congenital 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) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Heart-hand syndrome type 2 (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Heart-hand syndrome type 2 (disorder) Finding site Bone structure of upper limb (body structure) true Inferred relationship Some 1
Heart-hand syndrome type 2 (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Heart-hand syndrome type 2 (disorder) Is a Congenital dysplasia of limb (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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