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764812008: Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3655188016 Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3655189012 Autosomal recessive myogenic arthrogryposis multiplex congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3655190015 SYNE1-related arthrogryposis multiplex congenita en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3655191016 SYNE1 (spectrin repeat containing nuclear envelope protein 1) related arthrogryposis multiplex congenita en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3654860019 A rare inherited neuromuscular disease with prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning. This results in joint abnormalities that may involve both lower and upper extremities and is usually symmetric. Also associated with severe hypotonia at birth, bilateral club foot, motor development delay, mild facial weakness without ophthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement and progressive disease course with loss of ambulation after the first decade of life. 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
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Is a Inherited arthrogryposis true Inferred relationship Some
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Is a Amyoplasia congenita disruptive sequence (disorder) true Inferred relationship Some
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Is a Kongenit muskeldystrofi false Inferred relationship Some
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Occurrence Congenital false Inferred relationship Some 4
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Finding site Joint structure false Inferred relationship Some 4
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Associated morphology dysgenese false Inferred relationship Some 4
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Associated morphology dysgenese false Inferred relationship Some 3
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Associated morphology Contracture true Inferred relationship Some 1
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Finding site Skeletal muscle structure (body structure) true Inferred relationship Some 2
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Occurrence Congenital true Inferred relationship Some 2
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Occurrence Congenital false Inferred relationship Some 3
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 3
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Occurrence Congenital true Inferred relationship Some 1
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Finding site Joint structure false Inferred relationship Some 1
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Associated morphology Dystrophy true Inferred relationship Some 2
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Is a Congenital hereditary muscular dystrophy true Inferred relationship Some
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Interprets Range of joint movement true Inferred relationship Some 3
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Has interpretation Decreased true Inferred relationship Some 3
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Finding site Structure of joint region true Inferred relationship Some 1
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Clinical course (attribute) Progressive (qualifier value) true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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