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77956009: Steinert myotonic dystrophy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
129376015 Steinert myotonic dystrophy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
129377012 Steinert syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
129378019 Dystrophia myotonica en Synonym (core metadata concept) Inactive Entire term case insensitive (core metadata concept) SNOMED CT core
818843014 Steinert myotonic dystrophy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
1234184014 Myotonic dystrophy en Synonym (core metadata concept) Inactive Entire term case insensitive (core metadata concept) SNOMED CT core
1234185010 DM - Dystrophia myotonica en Synonym (core metadata concept) Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
1234186011 Myotonia dystrophica en Synonym (core metadata concept) Inactive Entire term case insensitive (core metadata concept) SNOMED CT core
4643494017 Myotonic dystrophy type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4643495016 Steinert disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5459559010 A rare genetic multi-system disorder characterised by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5459560017 A rare genetic multi-system disorder characterized by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Steinert myotonic dystrophy syndrome Is a Multiple malformation syndrome with unusual brain and/or neuromuscular findings false Inferred relationship Some
Steinert myotonic dystrophy syndrome Is a Congenital anomaly of skeletal muscle false Inferred relationship Some
Steinert myotonic dystrophy syndrome Is a Myotonic disorder false Inferred relationship Some
Steinert myotonic dystrophy syndrome Finding site Brain structure false Inferred relationship Some 2
Steinert myotonic dystrophy syndrome Occurrence Congenital false Inferred relationship Some
Steinert myotonic dystrophy syndrome Associated morphology Dystrophy false Inferred relationship Some 1
Steinert myotonic dystrophy syndrome Finding site Skeletal muscle structure false Inferred relationship Some 1
Steinert myotonic dystrophy syndrome Is a Congenital anomaly of skeletal muscle false Inferred relationship Some
Steinert myotonic dystrophy syndrome Associated morphology Congenital malformation false Inferred relationship Some
Steinert myotonic dystrophy syndrome Is a Muscular dystrophy false Inferred relationship Some
Steinert myotonic dystrophy syndrome Finding site Skeletal muscle structure true Inferred relationship Some 1
Steinert myotonic dystrophy syndrome Associated morphology Dystrophy true Inferred relationship Some 1
Steinert myotonic dystrophy syndrome Occurrence Congenital false Inferred relationship Some 2
Steinert myotonic dystrophy syndrome Associated morphology Developmental anomaly false Inferred relationship Some 2
Steinert myotonic dystrophy syndrome Occurrence Congenital false Inferred relationship Some 1
Steinert myotonic dystrophy syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Steinert myotonic dystrophy syndrome Clinical course Progressive (qualifier value) true Inferred relationship Some 2
Steinert myotonic dystrophy syndrome Is a Hereditary progressive muscular dystrophy false Inferred relationship Some
Steinert myotonic dystrophy syndrome Is a Autosomal dominant hereditary disorder false Inferred relationship Some
Steinert myotonic dystrophy syndrome Is a Myotonic dystrophy (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital myotonic dystrophy Is a True Steinert myotonic dystrophy syndrome Inferred relationship Some
Dilated cardiomyopathy due to myotonic dystrophy (disorder) Associated with False Steinert myotonic dystrophy syndrome Inferred relationship Some 2
Cardiomyopathy in myotonic dystrophy Associated with False Steinert myotonic dystrophy syndrome Inferred relationship Some 1
Family history of Steinert myotonic dystrophy (situation) Associated finding True Steinert myotonic dystrophy syndrome Inferred relationship Some 1
Dilated cardiomyopathy due to myotonic dystrophy (disorder) Due to False Steinert myotonic dystrophy syndrome Inferred relationship Some 2
Adult-onset Steinert myotonic dystrophy (disorder) Is a True Steinert myotonic dystrophy syndrome Inferred relationship Some
Childhood-onset Steinert myotonic dystrophy Is a True Steinert myotonic dystrophy syndrome Inferred relationship Some
Juvenile-onset Steinert myotonic dystrophy (disorder) Is a True Steinert myotonic dystrophy syndrome Inferred relationship Some
Late-onset Steinert myotonic dystrophy (disorder) Is a True Steinert myotonic dystrophy syndrome Inferred relationship Some

Reference Sets

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

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