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55016009: Congenital muscular hypertrophy-cerebral 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 Reference Sets
91471017 Congenital muscular hypertrophy-cerebral syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
91472012 Bruch-de Lange syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
793311012 Congenital muscular hypertrophy-cerebral syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
1197061000005119 kongenit muskelhypertrofi–cerebralt syndrom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept) Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital muscular hypertrophy-cerebral syndrome Is a Congenital myopathy false Inferred relationship Some
Congenital muscular hypertrophy-cerebral syndrome Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 2
Congenital muscular hypertrophy-cerebral syndrome Is a Congenital anomaly of skeletal muscle false Inferred relationship Some
Congenital muscular hypertrophy-cerebral syndrome Is a Muscular dystrophy false Inferred relationship Some
Congenital muscular hypertrophy-cerebral syndrome Associated morphology kongenit anomali false Inferred relationship Some 2
Congenital muscular hypertrophy-cerebral syndrome Occurrence Congenital false Inferred relationship Some
Congenital muscular hypertrophy-cerebral syndrome Associated morphology Dystrophy true Inferred relationship Some 1
Congenital muscular hypertrophy-cerebral syndrome Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 1
Congenital muscular hypertrophy-cerebral syndrome Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 1
Congenital muscular hypertrophy-cerebral syndrome Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 2
Congenital muscular hypertrophy-cerebral syndrome Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 2
Congenital muscular hypertrophy-cerebral syndrome Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 1
Congenital muscular hypertrophy-cerebral syndrome Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 1
Congenital muscular hypertrophy-cerebral syndrome Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 2
Congenital muscular hypertrophy-cerebral syndrome Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 2
Congenital muscular hypertrophy-cerebral syndrome Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 1
Congenital muscular hypertrophy-cerebral syndrome Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 2
Congenital muscular hypertrophy-cerebral syndrome Finding site Skeletal muscle structure (body structure) true Inferred relationship Some 1
Congenital muscular hypertrophy-cerebral syndrome Occurrence Congenital false Inferred relationship Some 3
Congenital muscular hypertrophy-cerebral syndrome Associated morphology dysgenese false Inferred relationship Some 3
Congenital muscular hypertrophy-cerebral syndrome Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 3
Congenital muscular hypertrophy-cerebral syndrome Occurrence Congenital false Inferred relationship Some 2
Congenital muscular hypertrophy-cerebral syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Congenital muscular hypertrophy-cerebral syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 2
Congenital muscular hypertrophy-cerebral syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital muscular hypertrophy-cerebral syndrome Is a Congenital hereditary muscular dystrophy true Inferred relationship Some
Congenital muscular hypertrophy-cerebral syndrome Occurrence Congenital true Inferred relationship Some 1
Congenital muscular hypertrophy-cerebral syndrome Clinical course (attribute) Progressive (qualifier value) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Danish translated concepts reference set (foundation metadata concept)

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