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783174004: Congenital muscular dystrophy with intellectual disability (disorder)


Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3757954011 Congenital muscular dystrophy with intellectual disability en Synonym Active Case insensitive SNOMED CT core
3757955012 Congenital muscular dystrophy with intellectual disability (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3757956013 A rare genetic congenital muscular dystrophy due to dystroglycanopathy disorder. The disease has characteristics of a wide phenotypic spectrum including hypotonia and muscular weakness, which is present at birth or early infancy and delayed or arrested motor development associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency and ocular anomalies (for example strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital muscular dystrophy with intellectual disability Occurrence Congenital true Inferred relationship Some 1
Congenital muscular dystrophy with intellectual disability Associated morphology Dystrophy true Inferred relationship Some 1
Congenital muscular dystrophy with intellectual disability Is a Intellectual disability true Inferred relationship Some
Congenital muscular dystrophy with intellectual disability Pathological process Pathological developmental process true Inferred relationship Some 1
Congenital muscular dystrophy with intellectual disability Finding site Skeletal muscle structure true Inferred relationship Some 1
Congenital muscular dystrophy with intellectual disability Finding site Brain structure true Inferred relationship Some 2
Congenital muscular dystrophy with intellectual disability Occurrence Congenital true Inferred relationship Some 2
Congenital muscular dystrophy with intellectual disability Is a Inherited metabolic disorder of nervous system true Inferred relationship Some
Congenital muscular dystrophy with intellectual disability Is a Congenital hereditary muscular dystrophy true Inferred relationship Some
Congenital muscular dystrophy with intellectual disability Is a Chronic metabolic disorder true Inferred relationship Some
Congenital muscular dystrophy with intellectual disability Is a Chronic brain syndrome true Inferred relationship Some
Congenital muscular dystrophy with intellectual disability Is a Chronic mental disorder false Inferred relationship Some
Congenital muscular dystrophy with intellectual disability Clinical course Progressive true Inferred relationship Some 3
Congenital muscular dystrophy with intellectual disability Interprets Intellectual ability true Inferred relationship Some 4
Congenital muscular dystrophy with intellectual disability Has interpretation Impaired true Inferred relationship Some 4
Congenital muscular dystrophy with intellectual disability Interprets Adaptation behaviour true Inferred relationship Some 5
Congenital muscular dystrophy with intellectual disability Has interpretation Impaired true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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