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1279883006: Laminin alpha-2 related limb girdle muscular dystrophy R23 (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
5234326019 Laminin alpha-2 related limb girdle muscular dystrophy R23 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5234327011 Laminin subunit alpha 2-related limb girdle muscular dystrophy R23 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5234329014 Laminin subunit alpha 2-related LGMD (limb girdle muscular dystrophy) R23 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5234330016 Laminin subunit alpha 2-related late-onset muscular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5234335014 Laminin alpha-2 related limb girdle muscular dystrophy R23 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5400728010 A rare autosomal recessive limb-girdle muscular dystrophy characterized by childhood to adult onset of slowly progressive limb girdle muscular weakness, often accompanied by calf hypertrophy, and moderately elevated creatine kinase levels. Patients remain ambulatory but may variably present mild intellectual disability, seizures, migraine, or cardiopulmonary involvement. Occurrence of dilated cardiomyopathy has been reported. Brain MRI typically shows hyperintensity in T2-weighted sequences. Muscle biopsy commonly reveals dystrophic features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400729019 A rare autosomal recessive limb-girdle muscular dystrophy characterised by childhood to adult onset of slowly progressive limb girdle muscular weakness, often accompanied by calf hypertrophy, and moderately elevated creatine kinase levels. Patients remain ambulatory but may variably present mild intellectual disability, seizures, migraine, or cardiopulmonary involvement. Occurrence of dilated cardiomyopathy has been reported. Brain MRI typically shows hyperintensity in T2-weighted sequences. Muscle biopsy commonly reveals dystrophic features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5234326019 Laminin alpha-2 related limb girdle muscular dystrophy R23 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5234327011 Laminin subunit alpha 2-related limb girdle muscular dystrophy R23 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5234329014 Laminin subunit alpha 2-related LGMD (limb girdle muscular dystrophy) R23 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5234330016 Laminin subunit alpha 2-related late-onset muscular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5234335014 Laminin alpha-2 related limb girdle muscular dystrophy R23 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5234328018 A rare autosomal recessive limb girdle muscular dystrophy with characteristics of childhood to adult onset of slowly progressive limb girdle muscular weakness often accompanied by calf hypertrophy and moderately elevated creatine kinase levels. Patients remain ambulatory but may variably present mild intellectual disability, seizures, migraine or cardiopulmonary involvement. Occurrence of dilated cardiomyopathy has been reported. Brain MRI typically shows hyperintensity in T2-weighted sequences. Muscle biopsy commonly reveals dystrophic features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400728010 A rare autosomal recessive limb-girdle muscular dystrophy characterized by childhood to adult onset of slowly progressive limb girdle muscular weakness, often accompanied by calf hypertrophy, and moderately elevated creatine kinase levels. Patients remain ambulatory but may variably present mild intellectual disability, seizures, migraine, or cardiopulmonary involvement. Occurrence of dilated cardiomyopathy has been reported. Brain MRI typically shows hyperintensity in T2-weighted sequences. Muscle biopsy commonly reveals dystrophic features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400729019 A rare autosomal recessive limb-girdle muscular dystrophy characterised by childhood to adult onset of slowly progressive limb girdle muscular weakness, often accompanied by calf hypertrophy, and moderately elevated creatine kinase levels. Patients remain ambulatory but may variably present mild intellectual disability, seizures, migraine, or cardiopulmonary involvement. Occurrence of dilated cardiomyopathy has been reported. Brain MRI typically shows hyperintensity in T2-weighted sequences. Muscle biopsy commonly reveals dystrophic features. 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
Laminin alpha-2 related limb girdle muscular dystrophy R23 (disorder) Is a Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Laminin alpha-2 related limb girdle muscular dystrophy R23 (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2
Laminin alpha-2 related limb girdle muscular dystrophy R23 (disorder) Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Laminin alpha-2 related limb girdle muscular dystrophy R23 (disorder) Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Laminin alpha-2 related limb girdle muscular dystrophy R23 (disorder) 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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