1187113001: Mucopolysaccharidosis-like plus disease (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Mucopolysaccharidosis-like plus disease
• \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\Mucopolysaccharidosis-like plus disease
• \Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Mucopolysaccharidosis-like plus disease
• \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\Mucopolysaccharidosis-like plus disease
• \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\Mucopolysaccharidosis-like plus disease
• \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\Mucopolysaccharidosis-like plus disease
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Mucopolysaccharidosis-like plus disease
• \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\Mucopolysaccharidosis-like plus disease
• \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\Mucopolysaccharidosis-like plus disease
• \Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Mucopolysaccharidosis-like plus disease
• \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\Mucopolysaccharidosis-like plus disease
• \Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Mucopolysaccharidosis-like plus disease
• \Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Mucopolysaccharidosis-like plus disease
• \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\Mucopolysaccharidosis-like plus disease
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Mucopolysaccharidosis-like plus disease
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Mucopolysaccharidosis-like plus disease
• \Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Mucopolysaccharidosis-like plus disease
• \Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Mucopolysaccharidosis-like plus disease
• \Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Mucopolysaccharidosis-like plus disease
• \Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Mucopolysaccharidosis-like plus disease
• \Respiratory finding\Respiratory disease\Mucopolysaccharidosis-like plus disease
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Mucopolysaccharidosis-like plus disease
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mucopolysaccharidosis-like plus disease
• \Disease\Disorder of body system\Disorder of haematopoietic structure\Mucopolysaccharidosis-like plus disease
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Mucopolysaccharidosis-like plus disease
• \Disease\Disorder of body system\Respiratory disease\Mucopolysaccharidosis-like plus disease
• \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\Mucopolysaccharidosis-like plus disease
• \Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Mucopolysaccharidosis-like plus disease
• \Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Mucopolysaccharidosis-like plus disease
• \Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Mucopolysaccharidosis-like plus disease
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Mucopolysaccharidosis-like plus disease
• \Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Mucopolysaccharidosis-like plus disease
• \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\Mucopolysaccharidosis-like plus disease
• \Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Mucopolysaccharidosis-like plus disease
• \Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Mucopolysaccharidosis-like plus disease
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Mucopolysaccharidosis-like plus disease
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Mucopolysaccharidosis-like plus disease
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Disease\Metabolic disease\Metabolic bone disease\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Mucopolysaccharidosis-like plus disease
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Mucopolysaccharidosis-like plus disease
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Mucopolysaccharidosis-like plus disease
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Mucopolysaccharidosis-like plus disease
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Mucopolysaccharidosis-like plus disease
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Mucopolysaccharidosis-like plus disease
• \Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Disease\Developmental disorder\Developmental hereditary disorder\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Mucopolysaccharidosis-like plus disease
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Mucopolysaccharidosis-like plus disease
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Mucopolysaccharidosis-like plus disease
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Mucopolysaccharidosis-like plus disease
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Mucopolysaccharidosis-like plus disease
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Mucopolysaccharidosis-like plus disease

Status: current, Primitive. Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4669910015	Mucopolysaccharidosis-like syndrome with congenital heart defect and hematopoietic disorder	en	Synonym	Active	Case insensitive	SNOMED CT core
4669911016	Mucopolysaccharidosis-like syndrome with congenital heart defect and haematopoietic disorder	en	Synonym	Active	Case insensitive	SNOMED CT core
4669914012	Mucopolysaccharidosis-like plus disease	en	Synonym	Active	Case insensitive	SNOMED CT core
4669915013	Mucopolysaccharidosis-like plus disease (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4669921012	A rare genetic disease characterized by early-onset respiratory difficulties and frequent respiratory infections, congenital heart defects, dysostosis multiplex, hepatosplenomegaly, renal involvement, hematopoietic abnormalities, facial dysmorphism (coarse facial features, large forehead, synophrys, long eyelashes, broad nasal bridge, macroglossia, short neck, and low hairline) and global developmental delay. Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal enzyme deficiency. The disease is usually fatal in the first years of life.	en	Definition	Active	Case sensitive	SNOMED CT core
4669922017	A rare genetic disease characterised by early-onset respiratory difficulties and frequent respiratory infections, congenital heart defects, dysostosis multiplex, hepatosplenomegaly, renal involvement, haematopoietic abnormalities, facial dysmorphism (coarse facial features, large forehead, synophrys, long eyelashes, broad nasal bridge, macroglossia, short neck, and low hairline) and global developmental delay. Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal enzyme deficiency. The disease is usually fatal in the first years of life.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Respiratory finding reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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