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24269006: Distal arthrogryposis 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
40738012 Distal arthrogryposis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
753886011 Distal arthrogryposis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1223230016 Distal arthrogryposis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5171561019 A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
1419601000005115 Distal artrogrypose da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) dansk modul


17 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal arthrogryposis syndrome Is a Multiple malformation syndrome with unusual brain and/or neuromuscular findings false Inferred relationship Some
Distal arthrogryposis syndrome Is a Arthrogryposis false Inferred relationship Some
Distal arthrogryposis syndrome Is a Congenital anomaly of skeletal muscle false Inferred relationship Some
Distal arthrogryposis syndrome Is a Autosomal hereditary disorder false Inferred relationship Some
Distal arthrogryposis syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Distal arthrogryposis syndrome Is a Hereditary disorder of nervous system false Inferred relationship Some
Distal arthrogryposis syndrome Finding site Skeletal muscle structure false Inferred relationship Some
Distal arthrogryposis syndrome Associated morphology Contracture true Inferred relationship Some 1
Distal arthrogryposis syndrome Finding site Joint structure false Inferred relationship Some 1
Distal arthrogryposis syndrome Occurrence Congenital false Inferred relationship Some
Distal arthrogryposis syndrome Finding site Brain structure false Inferred relationship Some
Distal arthrogryposis syndrome Is a Inherited arthrogryposis false Inferred relationship Some
Distal arthrogryposis syndrome Is a Disorder of skeletal muscle false Inferred relationship Some
Distal arthrogryposis syndrome Associated morphology kongenit anomali false Inferred relationship Some
Distal arthrogryposis syndrome Associated morphology Kongenit malformation false Inferred relationship Some
Distal arthrogryposis syndrome Finding site Joint structure false Inferred relationship Some 2
Distal arthrogryposis syndrome Associated morphology kongenit anomali false Inferred relationship Some 2
Distal arthrogryposis syndrome Finding site Joint structure false Inferred relationship Some 1
Distal arthrogryposis syndrome Finding site Joint structure false Inferred relationship Some 2
Distal arthrogryposis syndrome Finding site Joint structure false Inferred relationship Some 2
Distal arthrogryposis syndrome Finding site Joint structure false Inferred relationship Some 1
Distal arthrogryposis syndrome Finding site Joint structure false Inferred relationship Some 1
Distal arthrogryposis syndrome Finding site Joint structure false Inferred relationship Some 2
Distal arthrogryposis syndrome Finding site Joint structure false Inferred relationship Some 2
Distal arthrogryposis syndrome Finding site Joint structure false Inferred relationship Some 1
Distal arthrogryposis syndrome Finding site Joint structure false Inferred relationship Some 1
Distal arthrogryposis syndrome Finding site Joint structure false Inferred relationship Some 2
Distal arthrogryposis syndrome Occurrence Congenital false Inferred relationship Some 3
Distal arthrogryposis syndrome Associated morphology dysgenese false Inferred relationship Some 3
Distal arthrogryposis syndrome Finding site Joint structure false Inferred relationship Some 3
Distal arthrogryposis syndrome Occurrence Congenital false Inferred relationship Some 2
Distal arthrogryposis syndrome Finding site Joint structure false Inferred relationship Some 2
Distal arthrogryposis syndrome Is a Arthrogryposis true Inferred relationship Some
Distal arthrogryposis syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Distal arthrogryposis syndrome Associated morphology Contracture false Inferred relationship Some 2
Distal arthrogryposis syndrome Occurrence Congenital true Inferred relationship Some 1
Distal arthrogryposis syndrome Finding site Structure of joint region true Inferred relationship Some 1
Distal arthrogryposis syndrome Interprets Range of joint movement true Inferred relationship Some 2
Distal arthrogryposis syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Distal arthrogryposis syndrome Has interpretation Decreased true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Distal arthrogryposis type 2B (disorder) Is a True Distal arthrogryposis syndrome Inferred relationship Some
Distal arthrogryposis type 5 (disorder) Is a True Distal arthrogryposis syndrome Inferred relationship Some
Distal arthrogryposis type 4 (disorder) Is a True Distal arthrogryposis syndrome Inferred relationship Some
Distal arthrogryposis type 1 (disorder) Is a True Distal arthrogryposis syndrome Inferred relationship Some
Distal arthrogryposis type 6 (disorder) Is a True Distal arthrogryposis syndrome Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type (disorder) Is a True Distal arthrogryposis syndrome Inferred relationship Some
Freeman-Sheldon syndrome Is a True Distal arthrogryposis syndrome Inferred relationship Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) Is a True Distal arthrogryposis syndrome Inferred relationship Some
Autosomal dominant multiple pterygium syndrome (disorder) Is a True Distal arthrogryposis syndrome Inferred relationship Some
Distal arthrogryposis type 5D (disorder) Is a True Distal arthrogryposis syndrome Inferred relationship Some
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Is a True Distal arthrogryposis syndrome Inferred relationship Some
Hypomyelination neuropathy arthrogryposis syndrome (disorder) Is a False Distal arthrogryposis syndrome Inferred relationship Some
Distal arthrogryposis type 3 (disorder) Is a True Distal arthrogryposis syndrome Inferred relationship Some
Distal arthrogryposis type 10 (disorder) Is a True Distal arthrogryposis syndrome Inferred relationship Some
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Is a True Distal arthrogryposis syndrome Inferred relationship Some
Congenital contractural arachnodactyly Is a True Distal arthrogryposis syndrome Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome Is a True Distal arthrogryposis syndrome Inferred relationship Some
Hecht syndrome Is a True Distal arthrogryposis syndrome Inferred relationship Some

This concept is not in any reference sets

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