724146008: Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Musculoskeletal finding\Cartilage finding\Cartilage disorder\Osteochondropathy\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Musculoskeletal finding\Cartilage finding\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Osteochondropathy\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Osteochondropathy\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Osteochondropathy\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Osteochondropathy\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Osteochondropathy\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Osteochondropathy\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Osteochondropathy\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Osteochondropathy\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Metabolic disease\Metabolic bone disease\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Metabolic disease\Disorder of neurometabolic regulation\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3438261019	Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3438262014	Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5403251013	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403252018	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterised by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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