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783738002: Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3760097015 Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3760098013 Ostravik Lindemann Solberg syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3760099017 Heart defect, tongue hamartoma, polysyndactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3760100013 A rare genetic multiple congenital anomalies syndrome with characteristics of congenital heart defects (for example coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. There is evidence the disease is caused by compound heterozygous mutation in the WDPCP gene on chromosome 2p15. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
1938111000172110 syndrome d'Orstavik-Lindemann-Solberg fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
1938121000172117 "syndrome d'anomalie cardiaque, hamartome de la langue, polysyndactylie" 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)
1938101000172112 syndroom van Ostravik-Lindemann-Solberg 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)
1938131000172119 "syndroom van hartafwijking, hamartoom van tong en polysyndactylie" 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)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) Is a Congenital heart disease true Inferred relationship Some
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) Is a Polysyndactyly (disorder) true Inferred relationship Some
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) Finding site Heart structure true Inferred relationship Some 2
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) Finding site Digit structure true Inferred relationship Some 1
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) Is a Genetic disease true Inferred relationship Some
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) Associated morphology Congenital abnormal fusion true Inferred relationship Some 1
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) Is a Hamartoma of tongue true Inferred relationship Some
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) Finding site Tongue structure true Inferred relationship Some 3
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) Associated morphology Supernumerary structure true Inferred relationship Some 4
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) Associated morphology Hamartoma true Inferred relationship Some 3
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) Finding site Digit structure true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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