785298001: Muscle eye brain disease with bilateral multicystic leukodystrophy (disorder)

• SNOMED CT Concept\constatation clinique\...
• \lésion neurologique\Leukodystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\...
• \Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Leukodystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \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\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \Chronic brain syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \anomalie congénitale de l'encéphale\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \affection de la tête\Disorder of brain (disorder)\Chronic brain syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \constatation à propos d'un muscle\affection musculaire\...
• \Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \affection dégénérative du système musculosquelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \maladie chronique de l'appareil locomoteur\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\...
• \Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection dégénérative\affection dégénérative du système musculosquelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection dégénérative\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Leukodystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leukodystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic brain syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \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\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Leukodystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \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\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection dégénérative du système musculosquelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection musculaire\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection musculaire\affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection de la tête\Disorder of brain (disorder)\Chronic brain syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\trouble mental\Chronic mental disorder\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\maladie chronique\Chronic mental disorder\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\maladie chronique\trouble neurologique chronique\Chronic brain syndrome\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\trouble du développement\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy
• \Disease\trouble du développement\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Muscle eye brain disease with bilateral multicystic leukodystrophy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3766821016	Muscle eye brain disease with bilateral multicystic leucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3766824012	Muscle eye brain disease with bilateral multicystic leukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3766825013	Muscle eye brain disease with bilateral multicystic leukodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3766883016	A rare genetic congenital muscular alpha-dystroglycanopathy with brain and eye anomalies. The disorder has characteristics of a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. There is evidence the disease is caused by homozygous mutation in the DAG1 gene on chromosome 3p21.	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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