716110002: Upper limb defect with eye and ear abnormalities syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Ear and auditory finding (finding)\Ear finding\Disorder of ear\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \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\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Upper limb defect with eye and ear abnormalities syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Upper limb defect with eye and ear abnormalities syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3304769010	Upper limb defect with eye and ear abnormalities syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304770011	Upper limb defect with eye and ear abnormalities syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5401232010	A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401233017	A rare multiple congenital anomalies syndrome characterised by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.	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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