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

• SNOMED CT Concept\Clinical finding\...
• \Skin AND/OR mucosa finding\Skin finding\...
• \Hair finding\Disorder of hair\Disorder of hair growth\Hypertrichosis\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\TMEM94-associated congenital heart defect, facial dysmorphism, developmental 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\TMEM94-associated congenital heart defect, facial dysmorphism, developmental 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\TMEM94-associated congenital heart defect, facial dysmorphism, developmental 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\TMEM94-associated congenital heart defect, facial dysmorphism, developmental 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\TMEM94-associated congenital heart defect, facial dysmorphism, developmental 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\TMEM94-associated congenital heart defect, facial dysmorphism, developmental 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\TMEM94-associated congenital heart defect, facial dysmorphism, developmental 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\TMEM94-associated congenital heart defect, facial dysmorphism, developmental 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\TMEM94-associated congenital heart defect, facial dysmorphism, developmental 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\TMEM94-associated congenital heart defect, facial dysmorphism, developmental 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\TMEM94-associated congenital heart defect, facial dysmorphism, developmental 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\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypertrichosis\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\TMEM94-associated congenital heart defect, facial dysmorphism, developmental 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\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypertrichosis\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\TMEM94-associated congenital heart defect, facial dysmorphism, developmental 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\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\TMEM94-associated congenital heart defect, facial dysmorphism, developmental 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\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome

Status: current, Primitive. 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	Active	Case insensitive	SNOMED CT core
5048610019	Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5048611015	TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

REPLACED BY association reference set

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