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

• SNOMED CT Concept\constatation clinique\...
• \Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range (finding)\Dysplasia with increased bone density\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \lésion neurologique\lésion cérébrale\calcification cérébrale\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\lésion cérébrale\calcification cérébrale\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\calcification cérébrale\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\dégénérescence cérébrale de l'enfance\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\leuco-encéphalopathie\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\calcification cérébrale\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\dégénérescence cérébrale de l'enfance\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\leuco-encéphalopathie\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\calcification cérébrale\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\dégénérescence cérébrale de l'enfance\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\lésion cérébrale\calcification cérébrale\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\calcification cérébrale\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\dégénérescence cérébrale de l'enfance\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \constatation à propos l'encéphale\Disorder of brain (disorder)\leuco-encéphalopathie\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Finding of head region\leuco-encéphalopathie\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \affection de la tête\Disorder of brain (disorder)\...
• \Chronic brain syndrome\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Degenerative brain disorder\Cerebral degeneration (disorder)\...
• \calcification cérébrale\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \dégénérescence cérébrale de l'enfance\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \leuco-encéphalopathie\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \constatation générale à propos de l'observation du patient\constatation liée à une intervention\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Musculoskeletal finding\constatation à propos de l'os\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Dysplasia with increased bone density\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\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\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Genetic disease\maladie héréditaire\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\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\calcification cérébrale\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\dégénérescence cérébrale de l'enfance\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection dégénérative\Calcinosis\calcification cérébrale\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic brain syndrome\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection d'un système corporel\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\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\calcification cérébrale\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\dégénérescence cérébrale de l'enfance\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\leuco-encéphalopathie\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\calcification cérébrale\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\dégénérescence cérébrale de l'enfance\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\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\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection de la tête\Disorder of brain (disorder)\Chronic brain syndrome\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\calcification cérébrale\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\dégénérescence cérébrale de l'enfance\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\affection de la tête\Disorder of brain (disorder)\leuco-encéphalopathie\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\maladie chronique\trouble neurologique chronique\Chronic brain syndrome\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\trouble du développement\Developmental hereditary disorder\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Early-onset calcifying leucoencephalopathy, skeletal dysplasia
• \Disease\trouble du développement\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

Expanded Value Set

This concept is not in any reference sets

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