1208342001: Eye defects, arachnodactyly, cardiopathy syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Cardiac finding\Heart disease\Eye defects, arachnodactyly, cardiopathy syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
• \Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Eye defects, arachnodactyly, cardiopathy syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Eye defects, arachnodactyly, cardiopathy syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Eye defects, arachnodactyly, cardiopathy syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Eye defects, arachnodactyly, cardiopathy syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Eye defects, arachnodactyly, cardiopathy syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
• \Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Eye defects, arachnodactyly, cardiopathy syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Cardiovascular finding\Cardiac finding\Heart disease\Eye defects, arachnodactyly, cardiopathy syndrome
• \Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Eye defects, arachnodactyly, cardiopathy syndrome
• \Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Eye defects, arachnodactyly, cardiopathy syndrome
• \Cardiovascular finding\Cardiovascular disease\Heart disease\Eye defects, arachnodactyly, cardiopathy syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Eye defects, arachnodactyly, cardiopathy syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Heart disease\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Congenital disease\Congenital cardiovascular disorder\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome

Status: current, Primitive. Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4963741017	Eye defects, arachnodactyly, cardiopathy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4963742012	Al Gazali Al Talabani syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4963743019	Eye defects, arachnodactyly, cardiopathy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4963744013	Al Gazali Lytle syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4963745014	A rare genetic bone development disorder with characteristics of pre and postnatal growth retardation, skeletal anomalies such as arachnodactyly and bilateral talipes equinovarus, joint contractures with camptodactyly, dysmorphic facial features (including midface hypoplasia or micrognathia) and abnormalities of the anterior segment of the eye. Skeletal imaging may show diffuse osteopenia and multiple fractures. The syndrome is lethal within the first year of life. Caused by mutation in the B3GALT6 gene on chromosome 1p36.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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