783175003: Congenital muscular dystrophy without intellectual disability (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\...
• \Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \constatation à propos d'un muscle\affection musculaire\...
• \Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \affection dégénérative du système musculosquelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \maladie chronique de l'appareil locomoteur\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Congenital muscular dystrophy without intellectual disability (disorder)
• \Disease\affection dégénérative\affection dégénérative du système musculosquelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \Disease\affection dégénérative\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \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\Congenital muscular dystrophy without intellectual disability (disorder)
• \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\Congenital muscular dystrophy without intellectual disability (disorder)
• \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\Congenital muscular dystrophy without intellectual disability (disorder)
• \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\Congenital muscular dystrophy without intellectual disability (disorder)
• \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\Congenital muscular dystrophy without intellectual disability (disorder)
• \Disease\affection musculaire\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \Disease\trouble métabolique\Chronic metabolic disorder\Congenital muscular dystrophy without intellectual disability (disorder)
• \Disease\trouble métabolique\Inborn error of metabolism\Congenital muscular dystrophy without intellectual disability (disorder)
• \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\Congenital muscular dystrophy without intellectual disability (disorder)
• \Disease\Congenital disease\Inborn error of metabolism\Congenital muscular dystrophy without intellectual disability (disorder)
• \Disease\maladie chronique\Chronic metabolic disorder\Congenital muscular dystrophy without intellectual disability (disorder)
• \Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)
• \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\Congenital muscular dystrophy without intellectual disability (disorder)
• \Disease\trouble du développement\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy without intellectual disability (disorder)

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
3757957016	Congenital muscular dystrophy without intellectual disability (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3757958014	Congenital muscular dystrophy without intellectual disability	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3757959018	A rare genetic congenital muscular dystrophy due to dystroglycanopathy disorder with characteristics of a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start