1208998007: Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome

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

\Disorder of digit\Congenital anomaly of digit\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome

\Congenital anomaly of limb\Congenital anomaly of digit\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay 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\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay 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\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay 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\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay 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\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay 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\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay 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\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay 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\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay 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\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome

\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome

\Disease\Genetic disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay 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\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Mar 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5013909015 Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

5013910013 TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

5013911012 Tumour necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

5013912017 Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Existential restriction modifier
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	Is a	Congenital heart disease	true	Inferred relationship	Existential restriction modifier
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	Is a	Congenital anomaly of digit	true	Inferred relationship	Existential restriction modifier
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	Finding site	Structure of central nervous system	true	Inferred relationship	Existential restriction modifier	1
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	Finding site	Heart structure	true	Inferred relationship	Existential restriction modifier	2
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier	3
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	4
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	4
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5013909015	Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5013910013	TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5013911012	Tumour necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5013912017	Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module