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783770002: Alpha-B crystallin-related late-onset myopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3760298019 Alpha-B crystallin-related late-onset myopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3760299010 Alpha-B crystallin-related late-onset distal myopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3760300019 Alpha-B crystallin-related late-onset myopathy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3760301015 Late-onset distal crystallinopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3760302010 A rare genetic disease with characteristics of adult-onset myofibrillar myopathy variably associated with cardiomyopathy and/or posterior pole cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes. Caused by heterozygous mutation in the alpha-B-crystallin gene (CRYAB) on chromosome 11q23. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3760298019 Alpha-B crystallin-related late-onset myopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3760299010 Alpha-B crystallin-related late-onset distal myopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3760300019 Alpha-B crystallin-related late-onset myopathy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3760301015 Late-onset distal crystallinopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3760302010 A rare genetic disease with characteristics of adult-onset myofibrillar myopathy variably associated with cardiomyopathy and/or posterior pole cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes. Caused by heterozygous mutation in the alpha-B-crystallin gene (CRYAB) on chromosome 11q23. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3427111001000119 Alpha-B Crystallin-abhängige spät beginnende Myopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5591981000241116 myopathie causée par la cristalline alpha B à début tardif fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5591981000241116 myopathie causée par la cristalline alpha B à début tardif fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3427111001000119 Alpha-B Crystallin-abhängige spät beginnende Myopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Alpha-B crystallin-related late-onset myopathy (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Alpha-B crystallin-related late-onset myopathy (disorder) Occurrence Adulthood true Inferred relationship Existential restriction modifier (core metadata concept) 1
Alpha-B crystallin-related late-onset myopathy (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Alpha-B crystallin-related late-onset myopathy (disorder) Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Alpha-B crystallin-related late-onset myopathy (disorder) Is a Myofibrillar myopathy true Inferred relationship Existential restriction modifier (core metadata concept)
Alpha-B crystallin-related late-onset myopathy (disorder) Is a Chronic disease of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Alpha-B crystallin-related late-onset myopathy (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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