1222710008: Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disorder of skeletal system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Congenital anomaly of musculoskeletal system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5048625019	Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5048626018	Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5048627010	Au Kline syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5048628017	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability, hypotonia, craniofacial dysmorphism (such as ridged metopic sutures, long palpebral fissures, broad nasal bridge, hypoplastic alae nasi, low-set, prominent ears, prominent midline tongue groove and downturned mouth), congenital heart defects and variable skeletal abnormalities including hip dysplasia, vertebral anomalies and scoliosis. Additional reported manifestations include high pain tolerance and genitourinary anomalies. Brain imaging may show a thin corpus callosum or white matter abnormalities.	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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