FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server  |   User: [n/a]

724349009: Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3434278019 Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3434279010 Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3434280013 Hereditary inclusion body myopathy type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3434281012 Inclusion body myopathy type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3434282017 Disease characterized by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia and proximal muscle weakness. In adult cases, the muscular weakness is progressive. Nineteen affected individuals have been described from one large family. The causative gene, the hereditary inclusion-body myopathy (IBM3) gene, has been mapped to chromosome region 17p13.1. Inheritance is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core US English: Preferred (foundation metadata concept)
3434283010 Disease characterised by congenital joint contractures (normalising during early childhood), external ophthalmoplegia and proximal muscle weakness. In adult cases, the muscular weakness is progressive. Nineteen affected individuals have been described from one large family. The causative gene, the hereditary inclusion-body myopathy (IBM3) gene, has been mapped to chromosome region 17p13.1. Inheritance is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Is a External ophthalmoplegia true Inferred relationship Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Is a Arthrogryposis false Inferred relationship Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Is a Myopathy with cytoplasmic inclusions true Inferred relationship Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Finding site Structure of nervous system (body structure) true Inferred relationship Some 4
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Finding site Eye region structure (body structure) false Inferred relationship Some 5
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Associated morphology Contracture false Inferred relationship Some 4
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Finding site Joint structure false Inferred relationship Some 4
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Associated morphology dysgenese false Inferred relationship Some 5
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 5
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Is a Inherited arthrogryposis true Inferred relationship Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Finding site Skeletal muscle structure (body structure) true Inferred relationship Some 2
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Finding site Joint structure false Inferred relationship Some 1
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Associated morphology Contracture true Inferred relationship Some 1
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Interprets Range of joint movement true Inferred relationship Some 3
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Has interpretation Decreased true Inferred relationship Some 3
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Finding site Structure of joint region true Inferred relationship Some 1
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Finding site Structure of extraocular muscle true Inferred relationship Some 5
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Is a Myopathy of extraocular muscles true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start