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 (finding)\...
• \Viscus structure finding (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
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\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
• \Finding of limb structure\Disorder of limb (disorder)\...
• \Disorder of digit\Congenital anomaly of digit (disorder)\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Congenital anomaly of limb\Congenital anomaly of digit (disorder)\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 (finding)\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 (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\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)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\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)\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)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\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)\Finding of region of thorax\Disorder of thorax (disorder)\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)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\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)\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)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\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)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\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)\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 (disorder)\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 (disorder)\Congenital anomaly of central nervous system\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\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (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\Disorder of cardiovascular system (disorder)\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 foetus and/or newborn\Congenital disease (disorder)\Congenital cardiovascular disorder (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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\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\Disorder of nervous system (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\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (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\Disorder of cardiovascular system (disorder)\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 (disorder)\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 limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Disorder of limb (disorder)\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)\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)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\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)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\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 (disorder)\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 (disorder)\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)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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 (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\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 malformation\Congenital malformation syndrome (disorder)\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 malformation\Congenital malformation syndrome (disorder)\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 malformation\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 malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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 malformation\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 malformation\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 malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\TRAF7-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\TRAF7-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\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5013910013	TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399894018	A rare multiple congenital anomalies/dysmorphic syndrome characterized by 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), and 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399895017	A rare multiple congenital anomalies/dysmorphic syndrome characterised by 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), and 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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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