111501005: congenitale musculaire dystrofie (aandoening)

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hereditary muscular dystrophy	Is a	Muscular dystrophy	false	Inferred relationship	Some
Congenital hereditary muscular dystrophy	Is a	Congenital myopathy	false	Inferred relationship	Some
Congenital hereditary muscular dystrophy	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Congenital hereditary muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Some
Congenital hereditary muscular dystrophy	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital hereditary muscular dystrophy	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	3
Congenital hereditary muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Is a	Hereditary progressive muscular dystrophy	true	Inferred relationship	Some
Congenital hereditary muscular dystrophy	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Is a	Hereditary myopathy (disorder)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked muscular dystrophy with limb girdle distribution	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
autosomaal recessieve spierdystrofie met gen op 15q	Is a	False	Congenital hereditary muscular dystrophy	Inferred relationship	Some
congenitale spierdystrofie	Is a	False	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Hutterite type of muscular dystrophy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Is a	False	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Autosomal dominant muscular dystrophy with limb girdle distribution	Is a	False	Congenital hereditary muscular dystrophy	Inferred relationship	Some
X-linked muscular dystrophy not predominantly limb girdle	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Autosomal recessive muscular dystrophy not predominantly limb girdle	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Autosomal dominant muscular dystrophy not predominantly limb girdle	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Merosin deficient congenital muscular dystrophy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Muscle-eye-brain disease, congenital muscular dystrophy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Severe childhood autosomal recessive muscular dystrophy	Is a	False	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Early onset myopathy with fatal cardiomyopathy (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Bethlem myopathy (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Distal muscular dystrophy	Is a	False	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy due to lamin A/C mutation (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular hypertrophy-cerebral syndrome	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Western type of congenital muscular dystrophy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy with hyperlaxity (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Ullrich congenital muscular dystrophy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy with intellectual disability	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Walker-Warburg congenital muscular dystrophy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Eichsfeld type congenital muscular dystrophy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Epidermolysis bullosa simplex with muscular dystrophy (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy without intellectual disability (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy Paradas type (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy with cerebellar involvement	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy type 1B	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy type 1A	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Reunion-Indiana Amish type muscular dystrophy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy type 1D large gene mutation (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital myotonic dystrophy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Megaconial congenital muscular dystrophy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
178743010	Congenital hereditary muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
632216014	Congenital hereditary muscular dystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2622541000146114	congenitale musculaire dystrofie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2622551000146112	congenitale musculaire dystrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2622561000146110	CMD	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)