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721013001: Heart-hand syndrome type 3 (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 Reference Sets
3323038015 Heart-hand syndrome type 3 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3323039011 Heart-hand syndrome type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3323040013 Atriodigital dysplasia type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3323041012 Cardiomelic syndrome type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3323042017 Heart hand syndrome Spanish type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3323043010 Heart limb syndrome type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3323044016 A very rare type of heart-hand syndrome described in three members of a Spanish family to date. The syndrome has characteristics of cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
973001000172116 dysplasie atrio-digitale type 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2073301000172110 syndrome cœur-membres type 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2073311000172113 syndrome cardiomélique type espagnol fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2073321000172115 dysplasie atriodigitale type 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2073331000172117 syndrome cardiomélique type 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2196861000172112 syndrome cœur-main type 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
968701000172116 hart-handsyndroom type 3 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)
1000311000172110 atriodigitale dysplasie type 3 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2073341000172112 "hart-handsyndroom, Spaans type" nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2073351000172114 cardiomelisch syndroom type 3 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Heart-hand syndrome type 3 (disorder) Is a Intraventricular conduction defect true Inferred relationship Some
Heart-hand syndrome type 3 (disorder) Is a Congenital heart disease true Inferred relationship Some
Heart-hand syndrome type 3 (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Heart-hand syndrome type 3 (disorder) Is a Dysostosis true Inferred relationship Some
Heart-hand syndrome type 3 (disorder) Is a Brachydactyly of hand true Inferred relationship Some
Heart-hand syndrome type 3 (disorder) Finding site Cardiac conducting system structure true Inferred relationship Some 4
Heart-hand syndrome type 3 (disorder) Associated morphology Abnormally short growth false Inferred relationship Some 4
Heart-hand syndrome type 3 (disorder) Occurrence Congenital false Inferred relationship Some 4
Heart-hand syndrome type 3 (disorder) Finding site Entire digit of hand false Inferred relationship Some 4
Heart-hand syndrome type 3 (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 5
Heart-hand syndrome type 3 (disorder) Occurrence Congenital false Inferred relationship Some 5
Heart-hand syndrome type 3 (disorder) Finding site Bone structure of extremity false Inferred relationship Some 5
Heart-hand syndrome type 3 (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 6
Heart-hand syndrome type 3 (disorder) Occurrence Congenital false Inferred relationship Some 6
Heart-hand syndrome type 3 (disorder) Finding site Heart structure false Inferred relationship Some 6
Heart-hand syndrome type 3 (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Heart-hand syndrome type 3 (disorder) Finding site Entire digit of hand true Inferred relationship Some 2
Heart-hand syndrome type 3 (disorder) Occurrence Congenital true Inferred relationship Some 3
Heart-hand syndrome type 3 (disorder) Associated morphology Abnormally short growth true Inferred relationship Some 2
Heart-hand syndrome type 3 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Heart-hand syndrome type 3 (disorder) Finding site Bone structure of extremity true Inferred relationship Some 3
Heart-hand syndrome type 3 (disorder) Occurrence Congenital true Inferred relationship Some 1
Heart-hand syndrome type 3 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Heart-hand syndrome type 3 (disorder) Finding site Heart structure true Inferred relationship Some 1
Heart-hand syndrome type 3 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Heart-hand syndrome type 3 (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Heart-hand syndrome type 3 (disorder) Occurrence Congenital true Inferred relationship Some 2
Heart-hand syndrome type 3 (disorder) Associated morphology Dysplasia true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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