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

• SNOMED CT Concept\constatation clinique\...
• \Viscus structure finding (finding)\constatation cardiaque\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\...
• \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
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\constatation cardiaque\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \constatation à propos du système nerveux central\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
• \constatation à propos d'une région de la tête et du cou\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
• \affection de la tête\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
• \affection de la tête\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
• \constatation cardiovasculaire\constatation cardiaque\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\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\affection d'un système corporel\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\affection d'un système corporel\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\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\affection d'un système corporel\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\affection d'une extrémité\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\affection du tronc\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\affection de la tête\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\affection de la tête\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\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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 malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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 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\Congenital disease\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\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\TRAF7-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\maladie cardiaque congénitale\TRAF7-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 (disorder)\TRAF7-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\TRAF7-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\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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\trouble du développement\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\trouble du développement\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\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
• \Disease\trouble du développement\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\trouble du développement\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\trouble du développement\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\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
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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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