763778003: Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Larsen-like syndrome B3GAT3 type
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Larsen-like syndrome B3GAT3 type

\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Larsen-like syndrome B3GAT3 type
\Viscus structure finding\Cardiac finding\Heart disease\Chronic heart disease\Larsen-like syndrome B3GAT3 type
\Viscus structure finding\Cardiac finding\Heart disease\Injury of heart\Larsen-like syndrome B3GAT3 type
\Viscus structure finding\Injury of internal organ\Injury of intrathoracic organ\Injury of heart\Larsen-like syndrome B3GAT3 type

\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\Larsen-like syndrome B3GAT3 type
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Larsen-like syndrome B3GAT3 type
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Chest injury\Injury of intrathoracic organ\Injury of heart\Larsen-like syndrome B3GAT3 type
\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\Larsen-like syndrome B3GAT3 type
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Chronic heart disease\Larsen-like syndrome B3GAT3 type
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Injury of heart\Larsen-like syndrome B3GAT3 type
\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\Larsen-like syndrome B3GAT3 type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Chronic heart disease\Larsen-like syndrome B3GAT3 type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Injury of heart\Larsen-like syndrome B3GAT3 type
\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\Larsen-like syndrome B3GAT3 type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Chronic heart disease\Larsen-like syndrome B3GAT3 type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Injury of heart\Larsen-like syndrome B3GAT3 type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Larsen-like syndrome B3GAT3 type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Chest injury\Injury of intrathoracic organ\Injury of heart\Larsen-like syndrome B3GAT3 type
\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\Larsen-like syndrome B3GAT3 type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Chronic heart disease\Larsen-like syndrome B3GAT3 type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Injury of heart\Larsen-like syndrome B3GAT3 type
\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\Larsen-like syndrome B3GAT3 type
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Larsen-like syndrome B3GAT3 type
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Chest injury\Injury of intrathoracic organ\Injury of heart\Larsen-like syndrome B3GAT3 type
\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\Larsen-like syndrome B3GAT3 type
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Chronic heart disease\Larsen-like syndrome B3GAT3 type
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Injury of heart\Larsen-like syndrome B3GAT3 type
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Larsen-like syndrome B3GAT3 type
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Larsen-like syndrome B3GAT3 type
\Finding of trunk structure\Disorder of trunk\Injury of trunk\Chest injury\Injury of intrathoracic organ\Injury of heart\Larsen-like syndrome B3GAT3 type

\Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Larsen-like syndrome B3GAT3 type
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Larsen-like syndrome B3GAT3 type

\Finding of head and neck region\Injury of head and/or neck\Injury of head\Injury of face\Larsen-like syndrome B3GAT3 type
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Larsen-like syndrome B3GAT3 type
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Injury of face\Larsen-like syndrome B3GAT3 type
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Larsen-like syndrome B3GAT3 type
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Injury of face\Larsen-like syndrome B3GAT3 type
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Larsen-like syndrome B3GAT3 type
\Finding of head and neck region\Head finding\Disorder of head\Injury of head\Injury of face\Larsen-like syndrome B3GAT3 type

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Larsen-like syndrome B3GAT3 type
\Cardiovascular finding\Cardiac finding\Heart disease\Chronic heart disease\Larsen-like syndrome B3GAT3 type
\Cardiovascular finding\Cardiac finding\Heart disease\Injury of heart\Larsen-like syndrome B3GAT3 type
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Larsen-like syndrome B3GAT3 type
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Larsen-like syndrome B3GAT3 type
\Cardiovascular finding\Cardiovascular disease\Cardiovascular injury\Injury of heart\Larsen-like syndrome B3GAT3 type
\Cardiovascular finding\Cardiovascular disease\Chronic disease of cardiovascular system\Chronic heart disease\Larsen-like syndrome B3GAT3 type
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Larsen-like syndrome B3GAT3 type
\Cardiovascular finding\Cardiovascular disease\Heart disease\Chronic heart disease\Larsen-like syndrome B3GAT3 type
\Cardiovascular finding\Cardiovascular disease\Heart disease\Injury of heart\Larsen-like syndrome B3GAT3 type

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Larsen-like syndrome B3GAT3 type
\Musculoskeletal finding\Bone finding\Disorder of bone\Bone injury\Larsen-like syndrome B3GAT3 type
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Larsen-like syndrome B3GAT3 type
\Musculoskeletal finding\Joint finding\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Musculoskeletal finding\Joint finding\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Musculoskeletal finding\Joint finding\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Musculoskeletal finding\Joint finding\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Larsen-like syndrome B3GAT3 type
\Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Musculoskeletal finding\Musculoskeletal disorder\Injury of musculoskeletal system\Bone injury\Larsen-like syndrome B3GAT3 type
\Musculoskeletal finding\Musculoskeletal disorder\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Larsen-like syndrome B3GAT3 type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Bone injury\Larsen-like syndrome B3GAT3 type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Larsen-like syndrome B3GAT3 type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Larsen-like syndrome B3GAT3 type

\Disease\Disorder of joint region\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of joint region\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of joint region\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Larsen-like syndrome B3GAT3 type
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Larsen-like syndrome B3GAT3 type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Larsen-like syndrome B3GAT3 type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Larsen-like syndrome B3GAT3 type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Larsen-like syndrome B3GAT3 type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Larsen-like syndrome B3GAT3 type
\Disease\Traumatic or non-traumatic injury\Nontraumatic injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Disease\Traumatic or non-traumatic injury\Injury of head and/or neck\Injury of head\Injury of face\Larsen-like syndrome B3GAT3 type
\Disease\Traumatic or non-traumatic injury\Cardiovascular injury\Injury of heart\Larsen-like syndrome B3GAT3 type
\Disease\Traumatic or non-traumatic injury\Injury of internal organ\Injury of intrathoracic organ\Injury of heart\Larsen-like syndrome B3GAT3 type
\Disease\Traumatic or non-traumatic injury\Injury of musculoskeletal system\Bone injury\Larsen-like syndrome B3GAT3 type
\Disease\Traumatic or non-traumatic injury\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Disease\Traumatic or non-traumatic injury\Injury of trunk\Chest injury\Injury of intrathoracic organ\Injury of heart\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Larsen-like syndrome B3GAT3 type
\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\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular injury\Injury of heart\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Cardiovascular disease\Chronic disease of cardiovascular system\Chronic heart disease\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Chronic heart disease\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Injury of heart\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Chronic heart disease\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Injury of heart\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Musculoskeletal disorder\Injury of musculoskeletal system\Bone injury\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Musculoskeletal disorder\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Bone injury\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Chest injury\Injury of intrathoracic organ\Injury of heart\Larsen-like syndrome B3GAT3 type
\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\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Chronic heart disease\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Injury of heart\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of trunk\Injury of trunk\Chest injury\Injury of intrathoracic organ\Injury of heart\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of head\Disorder of face\Injury of face\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Larsen-like syndrome B3GAT3 type
\Disease\Disorder of head\Injury of head\Injury of face\Larsen-like syndrome B3GAT3 type
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Larsen-like syndrome B3GAT3 type
\Disease\Metabolic disease\Chronic metabolic disorder\Larsen-like syndrome B3GAT3 type
\Disease\Metabolic disease\Metabolic bone disease\Larsen-like syndrome B3GAT3 type
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Larsen-like syndrome B3GAT3 type
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Larsen-like syndrome B3GAT3 type
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Larsen-like syndrome B3GAT3 type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Larsen-like syndrome B3GAT3 type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Larsen-like syndrome B3GAT3 type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Larsen-like syndrome B3GAT3 type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Larsen-like syndrome B3GAT3 type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Larsen-like syndrome B3GAT3 type
\Disease\Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Larsen-like syndrome B3GAT3 type
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Larsen-like syndrome B3GAT3 type
\Disease\Chronic disease\Chronic disease of cardiovascular system\Chronic heart disease\Larsen-like syndrome B3GAT3 type
\Disease\Chronic disease\Chronic metabolic disorder\Larsen-like syndrome B3GAT3 type
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Larsen-like syndrome B3GAT3 type
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Larsen-like syndrome B3GAT3 type
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Larsen-like syndrome B3GAT3 type
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Larsen-like syndrome B3GAT3 type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Larsen-like syndrome B3GAT3 type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Larsen-like syndrome B3GAT3 type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Larsen-like syndrome B3GAT3 type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Larsen-like syndrome B3GAT3 type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Larsen-like syndrome B3GAT3 type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Larsen-like syndrome B3GAT3 type

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3643814016 Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type en Synonym Active Case sensitive SNOMED CT core

3643815015 Multiple joint dislocations, short stature, craniofacial dysmorphism, congenital heart defects syndrome en Synonym Active Case insensitive SNOMED CT core

3643816019 Larsen-like syndrome B3GAT3 type en Synonym Active Case sensitive SNOMED CT core

3643817011 Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3643818018 A rare genetic primary bone dysplasia with characteristics of laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Larsen-like syndrome B3GAT3 type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Larsen-like syndrome B3GAT3 type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Larsen-like syndrome B3GAT3 type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Larsen-like syndrome B3GAT3 type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Larsen-like syndrome B3GAT3 type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Larsen-like syndrome B3GAT3 type	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Larsen-like syndrome B3GAT3 type	Is a	Chronic metabolic disorder	true	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Is a	Chronic heart disease	true	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Associated morphology	Dislocation	true	Inferred relationship	Some	5
Larsen-like syndrome B3GAT3 type	Interprets	Range of joint movement	true	Inferred relationship	Some	4
Larsen-like syndrome B3GAT3 type	Has interpretation	Decreased	true	Inferred relationship	Some	4
Larsen-like syndrome B3GAT3 type	Finding site	Joint structure of multiple body sites	true	Inferred relationship	Some	5
Larsen-like syndrome B3GAT3 type	Is a	Inherited arthrogryposis	true	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Finding site	Structure of joint region	true	Inferred relationship	Some	7
Larsen-like syndrome B3GAT3 type	Occurrence	Congenital	true	Inferred relationship	Some	7
Larsen-like syndrome B3GAT3 type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	7
Larsen-like syndrome B3GAT3 type	Clinical course	Progressive	true	Inferred relationship	Some	6
Larsen-like syndrome B3GAT3 type	Associated morphology	Contracture	true	Inferred relationship	Some	7
Larsen-like syndrome B3GAT3 type	Due to	Spontaneous event	true	Inferred relationship	Some	8
Larsen-like syndrome B3GAT3 type	Associated morphology	Damage	false	Inferred relationship	Some	9
Larsen-like syndrome B3GAT3 type	Is a	Injury of face	true	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Is a	Bone injury	true	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Is a	Cardiovascular injury	false	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Is a	Injury of intrathoracic organ	false	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Is a	Injury of heart	true	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Is a	Congenital heart disease	true	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Is a	Metabolic bone disease	true	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Is a	Glycoprotein metabolism disorder	true	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Is a	Multiple dislocations with dysplasia	true	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Finding site	Structure of heart	false	Inferred relationship	Some	2
Larsen-like syndrome B3GAT3 type	Occurrence	Congenital	true	Inferred relationship	Some	1
Larsen-like syndrome B3GAT3 type	Occurrence	Congenital	true	Inferred relationship	Some	3
Larsen-like syndrome B3GAT3 type	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Larsen-like syndrome B3GAT3 type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Larsen-like syndrome B3GAT3 type	Finding site	Bone structure	false	Inferred relationship	Some	1
Larsen-like syndrome B3GAT3 type	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Larsen-like syndrome B3GAT3 type	Finding site	Face structure	true	Inferred relationship	Some	3
Larsen-like syndrome B3GAT3 type	Occurrence	Congenital	true	Inferred relationship	Some	2
Larsen-like syndrome B3GAT3 type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Larsen-like syndrome B3GAT3 type	Finding site	Structure of heart	true	Inferred relationship	Some	1
Larsen-like syndrome B3GAT3 type	Finding site	Bone structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3643814016	Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type	en	Synonym	Active	Case sensitive	SNOMED CT core
3643815015	Multiple joint dislocations, short stature, craniofacial dysmorphism, congenital heart defects syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3643816019	Larsen-like syndrome B3GAT3 type	en	Synonym	Active	Case sensitive	SNOMED CT core
3643817011	Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3643818018	A rare genetic primary bone dysplasia with characteristics of laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.	en	Definition	Active	Case sensitive	SNOMED CT core