719405005: Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Leukoencephalopathy\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Degenerative brain disorder\Cerebral degeneration\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Leukoencephalopathy\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Finding of head region\Leukoencephalopathy\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disorder of head\Encephalopathy\...
• \Degenerative brain disorder\Cerebral degeneration\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Leukoencephalopathy\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of head\Encephalopathy\Leukoencephalopathy\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3316235018	Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3316236017	Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3789576010	Leucoencephalopathy with metaphyseal chondrodysplasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3316237014	The association of leukoencephalopathy and metaphyseal chondrodysplasia has been reported in four men from a three-generation family. Onset manifests by spastic paraplegia at the age of 2, followed by tremor, ataxia, optic atrophy, and spastic tetraparesis. Transmission is X-linked and the gene responsible of the disease may be located at Xq25-q27.	en	Definition	Active	Case sensitive	SNOMED CT core
3789575014	The association of leucoencephalopathy and metaphyseal chondrodysplasia has been reported in four men from a three-generation family. Onset manifests by spastic paraplegia at the age of 2, followed by tremor, ataxia, optic atrophy, and spastic tetraparesis. Transmission is X-linked and the gene responsible of the disease may be located at Xq25-q27.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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