1222708006: Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair growth\hypertrichose\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\hypertrichose\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Viscus structure finding (finding)\constatation cardiaque\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \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\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \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\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \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\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \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\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \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\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \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\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \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\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \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\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \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\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \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\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \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\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \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\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair growth\hypertrichose\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\hypertrichose\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\hypertrichose\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \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\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\hypertrichose\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair growth\hypertrichose\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\hypertrichose\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \constatation cardiovasculaire\constatation cardiaque\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \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\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Cardiovascular system hereditary disorder\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Cardiovascular system hereditary disorder\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\hypertrichose\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \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\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\affection du tronc\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\maladie cardiaque congénitale\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \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\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\hypertrichose\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)
• \Disease\trouble du développement\retard de développement\Global developmental delay\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5048609012	Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048610019	Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048611015	TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048612010	A rare genetic neurodevelopmental disorder with characteristics of global developmental delay, congenital heart defects, generalised hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip and pointed chin.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048613017	A rare genetic neurodevelopmental disorder with characteristics of global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip and pointed chin.	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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