763279007: Facial dysmorphism, conductive hearing loss, heart defect syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Ear, nose and throat finding\Ear finding\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Ear and auditory finding (finding)\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Ear and auditory finding (finding)\Ear finding\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Decreased hearing (finding)\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Functional finding\Decline in functional status (finding)\Decreased hearing (finding)\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Functional finding\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Functional finding\Hearing finding (finding)\Decreased hearing (finding)\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Facial dysmorphism, conductive hearing loss, heart defect 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\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Disorder of head (disorder)\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Facial dysmorphism, conductive hearing loss, heart defect syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Facial dysmorphism, conductive hearing loss, heart defect syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3638377014	Facial dysmorphism, conductive hearing loss, heart defect syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3638378016	Tyshchenko syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3638379012	Facial dysmorphism, conductive hearing loss, heart defect syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3638380010	Dysmorphism, conductive hearing loss, heart defect syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403991015	Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403992010	Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterised by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.	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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