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\TRAF7-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\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Congenital anomaly of limb\Congenital anomaly of digit\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Genetic disease\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay 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\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\TRAF7-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\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-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\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Congenital disease\Congenital anomaly\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\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Congenital disease\Congenital anomaly\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\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Congenital disease\Congenital anomaly\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\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\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\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\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\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\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\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome

Status: current, Primitive. Date: 31-Mar 2022. Module: SNOMED CT core

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	Case insensitive	SNOMED CT core
5013910013	TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5013911012	Tumour necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Case insensitive	SNOMED CT core
5013916019	A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper or hypotonia, seizures, hearing loss, cortical blindness and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start