718178006: autosomaal dominante 'limb-girdle'-spierdystrofie type 1B (aandoening)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3311388014 Autosomal dominant limb girdle muscular dystrophy type 1B (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3311389018 Autosomal dominant limb girdle muscular dystrophy type 1B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

6161861000146110 LGMD1B nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7880161000146115 autosomaal dominante gordeldystrofie type 1B nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7880171000146114 'limb-girdle muscular dystrophy' door lamine A/C-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7880181000146111 autosomaal dominante 'limb-girdle'-spierdystrofie type 1B nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7880191000146113 autosomaal dominante 'limb-girdle'-spierdystrofie type 1B (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3311390010 Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a laminopathy with characteristics of progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild joint contractures and age-related atrioventricular cardiac conduction disturbances. Dilated cardiomyopathy is frequently associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
autosomaal dominante 'limb-girdle'-spierdystrofie type 1B	Is a	Autosomal recessive muscular dystrophy with limb girdle distribution	false	Inferred relationship	Some
autosomaal dominante 'limb-girdle'-spierdystrofie type 1B	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
autosomaal dominante 'limb-girdle'-spierdystrofie type 1B	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
autosomaal dominante 'limb-girdle'-spierdystrofie type 1B	Is a	Autosomal dominant muscular dystrophy with limb girdle distribution	false	Inferred relationship	Some
autosomaal dominante 'limb-girdle'-spierdystrofie type 1B	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
autosomaal dominante 'limb-girdle'-spierdystrofie type 1B	Occurrence	Congenital	false	Inferred relationship	Some	2
autosomaal dominante 'limb-girdle'-spierdystrofie type 1B	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
autosomaal dominante 'limb-girdle'-spierdystrofie type 1B	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
autosomaal dominante 'limb-girdle'-spierdystrofie type 1B	Clinical course	Progressive (qualifier value)	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)