240055003: Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\...

\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein

\Muscular dystrophy\Hereditary progressive muscular dystrophy\...

\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein

\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein

\Muscle finding\Disorder of muscle\...

\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\...

\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein

\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\...

\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein

\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein

\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\...

\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein

\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein

\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\...

\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein

\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

359651012 Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

629146014 Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

10053901000172115 dystrophie musculaire autosomique récessive avec anomalie de la glycoprotéine associée à la dystrophine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4337591000172110 autosomaal recessieve spierdystrofie met abnormaal DAPC nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4337601000172117 autosomaal recessieve spierdystrofie met abnormaal dystrofine geassocieerd proteïne complex nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Is a	Autosomal recessive muscular dystrophy with limb girdle distribution	true	Inferred relationship	Some
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Is a	Congenital hereditary muscular dystrophy	true	Inferred relationship	Some
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	1
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Occurrence	Congenital	false	Inferred relationship	Some
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	2
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	1
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	2
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	2
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	1
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	2
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	1
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	2
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	1
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	1
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	2
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Occurrence	Congenital	false	Inferred relationship	Some	3
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	3
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Occurrence	Congenital	true	Inferred relationship	Some	2
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	2
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Severe autosomal recessive muscular dystrophy of childhood - North African type	Is a	False	Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Inferred relationship	Some
Fukuyama congenital muscular dystrophy	Is a	True	Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
359651012	Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
629146014	Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
10053901000172115	dystrophie musculaire autosomique récessive avec anomalie de la glycoprotéine associée à la dystrophine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4337591000172110	autosomaal recessieve spierdystrofie met abnormaal DAPC	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4337601000172117	autosomaal recessieve spierdystrofie met abnormaal dystrofine geassocieerd proteïne complex	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)