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786039009: Arthrogryposis and ectodermal dysplasia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3770082019 Arthrogryposis and ectodermal dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3770083012 Stoll Alembik Finck syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3770084018 Arthrogryposis and ectodermal dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3770085017 Arthrogryposis, ectodermal dysplasia, other anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3770086016 A rare genetic developmental defect during embryogenesis syndrome with characteristics of camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism and microcephaly. There have been no further descriptions in the literature since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
4360621000052110 syndrom med artrogrypos och ektodermal dysplasi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Arthrogryposis and ectodermal dysplasia syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Arthrogryposis and ectodermal dysplasia syndrome Associated morphology Flexion deformity false Inferred relationship Some 5
Arthrogryposis and ectodermal dysplasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Arthrogryposis and ectodermal dysplasia syndrome Occurrence Congenital true Inferred relationship Some 5
Arthrogryposis and ectodermal dysplasia syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome Occurrence Congenital true Inferred relationship Some 2
Arthrogryposis and ectodermal dysplasia syndrome Finding site Skin structure false Inferred relationship Some 2
Arthrogryposis and ectodermal dysplasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Arthrogryposis and ectodermal dysplasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Arthrogryposis and ectodermal dysplasia syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome Finding site Musculoskeletal structure of digit of hand false Inferred relationship Some 5
Arthrogryposis and ectodermal dysplasia syndrome Associated morphology Contracture true Inferred relationship Some 4
Arthrogryposis and ectodermal dysplasia syndrome Is a Ectodermal dysplasia with hair-tooth-nail defects true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome Occurrence Congenital true Inferred relationship Some 4
Arthrogryposis and ectodermal dysplasia syndrome Occurrence Congenital true Inferred relationship Some 3
Arthrogryposis and ectodermal dysplasia syndrome Finding site Structure of joint region true Inferred relationship Some 4
Arthrogryposis and ectodermal dysplasia syndrome Is a Camptodactyly true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Arthrogryposis and ectodermal dysplasia syndrome Is a Inherited arthrogryposis true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome Associated morphology Dysplasia true Inferred relationship Some 1
Arthrogryposis and ectodermal dysplasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Arthrogryposis and ectodermal dysplasia syndrome Finding site Face structure true Inferred relationship Some 3
Arthrogryposis and ectodermal dysplasia syndrome Has interpretation Decreased true Inferred relationship Some 6
Arthrogryposis and ectodermal dysplasia syndrome Occurrence Congenital true Inferred relationship Some 1
Arthrogryposis and ectodermal dysplasia syndrome Finding site Ectoderm structure true Inferred relationship Some 1
Arthrogryposis and ectodermal dysplasia syndrome Interprets Range of joint movement true Inferred relationship Some 6
Arthrogryposis and ectodermal dysplasia syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Arthrogryposis and ectodermal dysplasia syndrome Finding site Hair structure (body structure) true Inferred relationship Some 8
Arthrogryposis and ectodermal dysplasia syndrome Finding site Nail unit structure true Inferred relationship Some 7
Arthrogryposis and ectodermal dysplasia syndrome Occurrence Congenital true Inferred relationship Some 8
Arthrogryposis and ectodermal dysplasia syndrome Associated morphology Fixed flexion deformity (morphologic abnormality) true Inferred relationship Some 5
Arthrogryposis and ectodermal dysplasia syndrome Occurrence Congenital true Inferred relationship Some 7
Arthrogryposis and ectodermal dysplasia syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 7
Arthrogryposis and ectodermal dysplasia syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 8
Arthrogryposis and ectodermal dysplasia syndrome Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome Is a Genetic disorder of nail (disorder) true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome Finding site Tooth structure true Inferred relationship Some 2
Arthrogryposis and ectodermal dysplasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 8
Arthrogryposis and ectodermal dysplasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 7
Arthrogryposis and ectodermal dysplasia syndrome Is a Flexion deformity of hand true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome Is a Finding of musculoskeletal structure of digit of hand true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome Is a Congenital anomaly of the hand true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome Finding site Musculoskeletal system structure of digit (body structure) true Inferred relationship Some 5
Arthrogryposis and ectodermal dysplasia syndrome Finding site Musculoskeletal structure of digit of hand true Inferred relationship Some 9
Arthrogryposis and ectodermal dysplasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 9
Arthrogryposis and ectodermal dysplasia syndrome Occurrence Congenital true Inferred relationship Some 9
Arthrogryposis and ectodermal dysplasia syndrome Associated morphology Flexion deformity true Inferred relationship Some 9
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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