1187642008: Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Cardiac finding\...
• \Finding of left ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Myocardial finding\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Heart disease\Disorder of cardiac ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Disorder of cardiac ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Finding of left ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Disorder of cardiac ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Disorder of cardiac ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Disorder of cardiac ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Disorder of cardiac ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Macrocephaly\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Macrocephaly\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Cardiovascular finding\Cardiac finding\Finding of left ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Cardiovascular finding\Cardiac finding\Heart disease\Disorder of cardiac ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Cardiovascular finding\Cardiovascular disease\Heart disease\Disorder of cardiac ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disorder of skeletal system\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Congenital anomaly of musculoskeletal system\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Heart disease\Disorder of cardiac ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Disorder of cardiac ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Disorder of cardiac ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, left ventricular non compaction syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Macrocephaly, intellectual disability, left ventricular non compaction syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4675711017	Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4675712012	Macrocephaly, intellectual disability, left ventricular non compaction syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4675713019	A rare genetic syndromic intellectual disability with characteristics of motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.	en	Definition	Active	Case sensitive	SNOMED CT core
4675714013	A rare genetic syndromic intellectual disability with characteristics of motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behaviour. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.	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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