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1279886003: Calpain-3-related limb girdle muscular dystrophy D4 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5234344010 Calpain-3-related limb girdle muscular dystrophy D4 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5234345011 Calpain-3-related limb girdle muscular dystrophy D4 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5234346012 Limb girdle muscular dystrophy type D4 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5400732016 A rare autosomal dominant limb-girdle muscular dystrophy characterized by adult onset of proximal muscle weakness, pain, and wasting predominantly affecting the proximal leg, lumbar paraspinal, and medial gastrocnemius muscles. Upper limb involvement may also be observed in some cases. Serum creatine kinase is often, but not always, elevated, and muscle biopsy shows non-specific myopathic changes. The severity of the disease is variable, although most patients remain ambulatory. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400733014 A rare autosomal dominant limb-girdle muscular dystrophy characterised by adult onset of proximal muscle weakness, pain, and wasting predominantly affecting the proximal leg, lumbar paraspinal, and medial gastrocnemius muscles. Upper limb involvement may also be observed in some cases. Serum creatine kinase is often, but not always, elevated, and muscle biopsy shows non-specific myopathic changes. The severity of the disease is variable, although most patients remain ambulatory. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5234344010 Calpain-3-related limb girdle muscular dystrophy D4 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5234345011 Calpain-3-related limb girdle muscular dystrophy D4 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5234346012 Limb girdle muscular dystrophy type D4 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5234347015 A rare autosomal dominant limb girdle muscular dystrophy with characteristics of adult onset of proximal muscle weakness, pain and wasting predominantly affecting the proximal leg, lumbar paraspinal and medial gastrocnemius muscles. Upper limb involvement may also be observed in some cases. Serum creatine kinase is often but not always elevated and muscle biopsy shows non-specific myopathic changes. The severity of the disease is variable although most patients remain ambulatory. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400732016 A rare autosomal dominant limb-girdle muscular dystrophy characterized by adult onset of proximal muscle weakness, pain, and wasting predominantly affecting the proximal leg, lumbar paraspinal, and medial gastrocnemius muscles. Upper limb involvement may also be observed in some cases. Serum creatine kinase is often, but not always, elevated, and muscle biopsy shows non-specific myopathic changes. The severity of the disease is variable, although most patients remain ambulatory. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400733014 A rare autosomal dominant limb-girdle muscular dystrophy characterised by adult onset of proximal muscle weakness, pain, and wasting predominantly affecting the proximal leg, lumbar paraspinal, and medial gastrocnemius muscles. Upper limb involvement may also be observed in some cases. Serum creatine kinase is often, but not always, elevated, and muscle biopsy shows non-specific myopathic changes. The severity of the disease is variable, although most patients remain ambulatory. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Calpain-3-related limb girdle muscular dystrophy D4 Is a Autosomal dominant muscular dystrophy with limb girdle distribution true Inferred relationship Existential restriction modifier (core metadata concept)
Calpain-3-related limb girdle muscular dystrophy D4 Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2
Calpain-3-related limb girdle muscular dystrophy D4 Occurrence Adulthood true Inferred relationship Existential restriction modifier (core metadata concept) 1
Calpain-3-related limb girdle muscular dystrophy D4 Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Calpain-3-related limb girdle muscular dystrophy D4 Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Calpain-3-related limb girdle muscular dystrophy D4 Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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