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111508004: Emery-Dreifuss muscular dystrophy (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
178750014 Emery-Dreifuss muscular dystrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
363299012 EMD - Emery-Dreifuss muscular dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
363300016 Benign scapuloperoneal muscular dystrophy with early contractures en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
632293017 Emery-Dreifuss muscular dystrophy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core


3 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Emery-Dreifuss muscular dystrophy Is a X-linked muscular dystrophy not predominantly limb girdle false Inferred relationship Some
Emery-Dreifuss muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 2
Emery-Dreifuss muscular dystrophy Associated morphology Congenital anomaly false Inferred relationship Some 2
Emery-Dreifuss muscular dystrophy Occurrence Congenital false Inferred relationship Some
Emery-Dreifuss muscular dystrophy Associated morphology Dystrophy true Inferred relationship Some 1
Emery-Dreifuss muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 1
Emery-Dreifuss muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 1
Emery-Dreifuss muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 2
Emery-Dreifuss muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 1
Emery-Dreifuss muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 2
Emery-Dreifuss muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 1
Emery-Dreifuss muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 2
Emery-Dreifuss muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 1
Emery-Dreifuss muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 2
Emery-Dreifuss muscular dystrophy Finding site Skeletal muscle structure true Inferred relationship Some 1
Emery-Dreifuss muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 2
Emery-Dreifuss muscular dystrophy Occurrence Congenital false Inferred relationship Some 3
Emery-Dreifuss muscular dystrophy Associated morphology Developmental anomaly false Inferred relationship Some 3
Emery-Dreifuss muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 3
Emery-Dreifuss muscular dystrophy Occurrence Congenital false Inferred relationship Some 2
Emery-Dreifuss muscular dystrophy Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 2
Emery-Dreifuss muscular dystrophy Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Emery-Dreifuss muscular dystrophy Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Emery-Dreifuss muscular dystrophy Occurrence Congenital false Inferred relationship Some 1
Emery-Dreifuss muscular dystrophy Clinical course Progressive (qualifier value) true Inferred relationship Some 2
Emery-Dreifuss muscular dystrophy Is a Genetic disease false Inferred relationship Some
Emery-Dreifuss muscular dystrophy Is a Muscular dystrophy true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder) Is a True Emery-Dreifuss muscular dystrophy Inferred relationship Some
Autosomal recessive Emery-Dreifuss muscular dystrophy Is a True Emery-Dreifuss muscular dystrophy Inferred relationship Some
X-linked Emery-Dreifuss muscular dystrophy Is a True Emery-Dreifuss muscular dystrophy Inferred relationship Some

This concept is not in any reference sets

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