1237228009: Night blindness, skeletal anomalies, dysmorphism syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Night blindness\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Finding of head region\Globe finding\Retina finding\Retinal disorder\Night blindness\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Night blindness\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Night blindness\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Night blindness\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Night blindness\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Night blindness\Night blindness, skeletal anomalies, dysmorphism syndrome
• \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
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Chronic disease of musculoskeletal system\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Disorder of skeletal system\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Congenital anomaly of musculoskeletal system\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Disease\Genetic disease\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Night blindness\Night blindness, skeletal anomalies, dysmorphism syndrome
• \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
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Night blindness\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Night blindness, skeletal anomalies, dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Night blindness, skeletal anomalies, dysmorphism syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
5091258010	Night blindness, skeletal anomalies, dysmorphism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5091259019	Hunter Thompson Reed syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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