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

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome

\Digestive system finding\Finding of mouth region\Disease of mouth\Oral lesion\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of oral soft tissues\Disorder of tongue\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Mass of oral cavity\Mass of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tongue finding\Mass of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tongue finding\Disorder of tongue\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Digestive system finding\Mass of digestive structure\Mass of oral cavity\Mass of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Oral lesion\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of oral soft tissues\Disorder of tongue\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of tongue\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome

\Finding of limb structure\Disorder of extremity\...

\Disorder of digit\Congenital anomaly of digit\...

\Syndactyly\Polysyndactyly\Heart defect, tongue hamartoma, polysyndactyly syndrome

\Polydactyly\Polysyndactyly\Heart defect, tongue hamartoma, polysyndactyly syndrome

\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Heart defect, tongue hamartoma, polysyndactyly syndrome

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome

\Mass of body structure\Mass of soft tissue\Mass of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Mass of body structure\Mass of body region\Mass of head and/or neck\Mass of head\Mass of oral cavity\Mass of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Mass of body structure\Mass of digestive structure\Mass of oral cavity\Mass of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome

\General finding of soft tissue\Mass of soft tissue\Mass of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\General finding of soft tissue\Tongue finding\Mass of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\General finding of soft tissue\Tongue finding\Disorder of tongue\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of tongue\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome

\Finding of head and neck region\Head finding\Mass of head\Mass of oral cavity\Mass of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Disease of mouth\Oral lesion\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of oral soft tissues\Disorder of tongue\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Oral cavity finding\Mass of oral cavity\Mass of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Oral cavity finding\Tongue finding\Mass of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Oral cavity finding\Tongue finding\Disorder of tongue\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of tongue\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disease of mouth\Oral lesion\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disease of mouth\Disorder of oral soft tissues\Disorder of tongue\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Finding of head and neck region\Mass of head and/or neck\Mass of head\Mass of oral cavity\Mass of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome

\Disease\Genetic disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Neoplasm and/or hamartoma\Hamartoma\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Oral lesion\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of oral soft tissues\Disorder of tongue\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of tongue\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Disorder of head\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of tongue\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Disorder of head\Disease of mouth\Oral lesion\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of oral soft tissues\Disorder of tongue\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of tongue\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of tongue\Hamartoma of tongue\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Heart defect, tongue hamartoma, polysyndactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Heart defect, tongue hamartoma, polysyndactyly syndrome

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3760097015 Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3760098013 Ostravik Lindemann Solberg syndrome en Synonym Active Case sensitive SNOMED CT core

3760099017 Heart defect, tongue hamartoma, polysyndactyly syndrome en Synonym Active Case insensitive SNOMED CT core

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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3760097015	Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3760098013	Ostravik Lindemann Solberg syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3760099017	Heart defect, tongue hamartoma, polysyndactyly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core