240047005: X-gebonden 'limb-girdle'-spierdystrofie (aandoening)

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\X-linked muscular dystrophy with limb girdle distribution

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

\Muscular dystrophy with predominantly proximal limb girdle distribution\X-linked muscular dystrophy with limb girdle distribution

\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution

\Muscle finding\Disorder of muscle\...

\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution

\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\...

\Muscular dystrophy with predominantly proximal limb girdle distribution\X-linked muscular dystrophy with limb girdle distribution

\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution

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

\Muscular dystrophy with predominantly proximal limb girdle distribution\X-linked muscular dystrophy with limb girdle distribution

\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\X-linked muscular dystrophy with limb girdle distribution
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution

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

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

\Muscular dystrophy with predominantly proximal limb girdle distribution\X-linked muscular dystrophy with limb girdle distribution

\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution

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

\Muscular dystrophy with predominantly proximal limb girdle distribution\X-linked muscular dystrophy with limb girdle distribution

\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution

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

\Muscular dystrophy with predominantly proximal limb girdle distribution\X-linked muscular dystrophy with limb girdle distribution

\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\X-linked muscular dystrophy with limb girdle distribution
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\X-linked muscular dystrophy with limb girdle distribution
\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\X-linked muscular dystrophy with limb girdle distribution
\Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\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\X-linked muscular dystrophy with limb girdle distribution
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\X-linked muscular dystrophy with limb girdle distribution
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked muscular dystrophy with limb girdle distribution
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\Disease\Disorder of foetus and/or newborn\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\X-linked muscular dystrophy with limb girdle distribution
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\X-linked muscular dystrophy with limb girdle distribution
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\X-linked muscular dystrophy with limb girdle distribution
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\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\X-linked muscular dystrophy with limb girdle distribution
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\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\X-linked muscular dystrophy with limb girdle distribution
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\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\X-linked muscular dystrophy with limb girdle distribution
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\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\X-linked muscular dystrophy with limb girdle distribution
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\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\X-linked muscular dystrophy with limb girdle distribution
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\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\X-linked muscular dystrophy with limb girdle distribution
\Disease\Disorder of muscle\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\Disease\Disorder of muscle\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\X-linked muscular dystrophy with limb girdle distribution
\Disease\Disorder of muscle\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\X-linked muscular dystrophy with limb girdle distribution
\Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\X-linked muscular dystrophy with limb girdle distribution
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\X-linked muscular dystrophy with limb girdle distribution
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\X-linked muscular dystrophy with limb girdle distribution
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\X-linked muscular dystrophy with limb girdle distribution
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution
\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\X-linked muscular dystrophy with limb girdle distribution
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\X-linked muscular dystrophy with limb girdle distribution
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\X-linked muscular dystrophy with limb girdle distribution

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked muscular dystrophy with limb girdle distribution	Is a	Muscular dystrophy with predominantly proximal limb girdle distribution	true	Inferred relationship	Some
X-linked muscular dystrophy with limb girdle distribution	Is a	Congenital hereditary muscular dystrophy	true	Inferred relationship	Some
X-linked muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
X-linked muscular dystrophy with limb girdle distribution	Occurrence	Congenital	false	Inferred relationship	Some
X-linked muscular dystrophy with limb girdle distribution	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
X-linked muscular dystrophy with limb girdle distribution	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
X-linked muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
X-linked muscular dystrophy with limb girdle distribution	Is a	'limb-girdle'-spierdystrofie (aandoening)	false	Inferred relationship	Some
X-linked muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
X-linked muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
X-linked muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
X-linked muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
X-linked muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
X-linked muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
X-linked muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
X-linked muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
X-linked muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
X-linked muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
X-linked muscular dystrophy with limb girdle distribution	Occurrence	Congenital	false	Inferred relationship	Some	3
X-linked muscular dystrophy with limb girdle distribution	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
X-linked muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	3
X-linked muscular dystrophy with limb girdle distribution	Occurrence	Congenital	false	Inferred relationship	Some	2
X-linked muscular dystrophy with limb girdle distribution	Is a	X-linked hereditary disease	true	Inferred relationship	Some
X-linked muscular dystrophy with limb girdle distribution	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	2
X-linked muscular dystrophy with limb girdle distribution	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
X-linked muscular dystrophy with limb girdle distribution	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked muscular dystrophy with limb girdle distribution	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked muscular dystrophy with limb girdle distribution	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked muscular dystrophy with abnormal dystrophin	Is a	True	X-linked muscular dystrophy with limb girdle distribution	Inferred relationship	Some
X-linked limb girdle muscular dystrophy with normal dystrophin	Is a	True	X-linked muscular dystrophy with limb girdle distribution	Inferred relationship	Some

Reference Sets

Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
359641011	X-linked muscular dystrophy with limb girdle distribution	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
629137015	X-linked muscular dystrophy with limb girdle distribution (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13951000146111	X-gebonden limb-girdle spierdystrofie	nl	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13961000146114	X-linked limb-girdle muscular dystrophy [X-LGMD]	nl	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
731121000146110	X-gebonden limb-girdle spierdystrofie (aandoening)	nl	Fully specified name	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
731131000146112	X-LGMD	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
731141000146116	X-linked limb-girdle muscular dystrophy	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7974881000146110	X-gebonden 'limb-girdle'-spierdystrofie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7974891000146112	X-gebonden 'limb-girdle'-spierdystrofie (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)