1222661007: Early-onset calcifying leukoencephalopathy, skeletal dysplasia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Neurological lesion\Lesion of brain\Cerebral calcification\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Lesion of brain\Cerebral calcification\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in childhood\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Leukoencephalopathy\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Lesion of brain\Cerebral calcification\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in childhood\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in childhood\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Procedure related finding\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Procedure related finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of brain\Disorder of brain (disorder)\...
• \Lesion of brain\Cerebral calcification\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Chronic brain syndrome\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Degenerative brain disorder\Cerebral degeneration (disorder)\...
• \Cerebral calcification\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Cerebral degeneration in childhood\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Leukoencephalopathy\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Finding of head region\Leukoencephalopathy\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disorder of head (disorder)\Disorder of brain (disorder)\...
• \Lesion of brain\Cerebral calcification\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Chronic brain syndrome\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Degenerative brain disorder\Cerebral degeneration (disorder)\...
• \Cerebral calcification\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Cerebral degeneration in childhood\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Leukoencephalopathy\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Musculoskeletal finding\Bone finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in childhood\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Degenerative disorder\Calcinosis\Cerebral calcification\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Lesion of brain\Cerebral calcification\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in childhood\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in childhood\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \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\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Lesion of brain\Cerebral calcification\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in childhood\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Developmental disorder\Developmental hereditary disorder\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Early-onset calcifying leucoencephalopathy, skeletal dysplasia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5048356019	Early-onset calcifying leucoencephalopathy, skeletal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048357011	Early-onset calcifying leukoencephalopathy, skeletal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048358018	Early-onset calcifying leukoencephalopathy, skeletal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048359014	A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048360016	A rare genetic neurological disorder characterised by paediatric onset of calcifying leucoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modelling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13753621000172116	vroeg optredende calcificerende leukencefalopathie met skeletdysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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