1237228009: Night blindness, skeletal anomalies, dysmorphism 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)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Night blindness\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \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\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Night blindness\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Night blindness\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Night blindness\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \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\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \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\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Night blindness\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Night blindness\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Night blindness\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of vision\Visual disturbance\Blindness AND/OR vision impairment level\Night blindness\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Chronic disease of musculoskeletal system\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Disorder of skeletal system\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Congenital anomaly of musculoskeletal system\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Night blindness\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Disease\Genetic disease\Night blindness, skeletal anomalies, dysmorphism 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 facial defects as major feature\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \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\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Night blindness\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of vision\Visual disturbance\Blindness AND/OR vision impairment level\Night blindness\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Night blindness\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5091257017	Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5091258010	Night blindness, skeletal anomalies, dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5091259019	Hunter Thompson Reed syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5091260012	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms.	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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