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52616002: Freeman-Sheldon 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
87570012 Freeman-Sheldon syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
87571011 Whistling face syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
790645014 Freeman-Sheldon syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3425566016 Distal arthrogryposis type 2A en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3425567013 A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
1441491000005119 Freeman-Sheldons 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
Freeman-Sheldon syndrome Is a Multiple malformation syndrome with unusual brain and/or neuromuscular findings false Inferred relationship Some
Freeman-Sheldon syndrome Is a Congenital anomaly of face false Inferred relationship Some
Freeman-Sheldon syndrome Finding site Face structure false Inferred relationship Some
Freeman-Sheldon syndrome Finding site Brain structure false Inferred relationship Some 3
Freeman-Sheldon syndrome Occurrence Congenital false Inferred relationship Some
Freeman-Sheldon syndrome Associated morphology kongenit anomali false Inferred relationship Some 2
Freeman-Sheldon syndrome Is a Autosomal dominant hereditary disorder false Inferred relationship Some
Freeman-Sheldon syndrome Is a Congenital anomaly of face bones true Inferred relationship Some
Freeman-Sheldon syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Freeman-Sheldon syndrome Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Some
Freeman-Sheldon syndrome Finding site Bone structure of face false Inferred relationship Some 2
Freeman-Sheldon syndrome Associated morphology Kongenit malformation false Inferred relationship Some 1
Freeman-Sheldon syndrome Associated morphology Kongenit malformation false Inferred relationship Some 2
Freeman-Sheldon syndrome Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Freeman-Sheldon syndrome Associated morphology kongenit anomali false Inferred relationship Some 3
Freeman-Sheldon syndrome Finding site Bone structure of cranium false Inferred relationship Some 3
Freeman-Sheldon syndrome Associated morphology Kongenit malformation false Inferred relationship Some 2
Freeman-Sheldon syndrome Associated morphology Kongenit malformation false Inferred relationship Some 3
Freeman-Sheldon syndrome Finding site Bone structure of face false Inferred relationship Some 1
Freeman-Sheldon syndrome Associated morphology Kongenit malformation false Inferred relationship Some 1
Freeman-Sheldon syndrome Occurrence Congenital true Inferred relationship Some 2
Freeman-Sheldon syndrome Associated morphology dysgenese false Inferred relationship Some 2
Freeman-Sheldon syndrome Finding site Bone structure of face true Inferred relationship Some 2
Freeman-Sheldon syndrome Occurrence Congenital true Inferred relationship Some 1
Freeman-Sheldon syndrome Is a Distal arthrogryposis syndrome true Inferred relationship Some
Freeman-Sheldon syndrome Is a Multiple malformation syndrome with facial defects as major feature (disorder) true Inferred relationship Some
Freeman-Sheldon syndrome Associated morphology Contracture true Inferred relationship Some 1
Freeman-Sheldon syndrome Finding site Joint structure false Inferred relationship Some 1
Freeman-Sheldon syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Freeman-Sheldon syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Freeman-Sheldon syndrome Is a Congenital anomaly of bone and joint (disorder) false Inferred relationship Some
Freeman-Sheldon syndrome Is a Inherited arthrogryposis false Inferred relationship Some
Freeman-Sheldon syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Freeman-Sheldon syndrome Has interpretation Decreased true Inferred relationship Some 3
Freeman-Sheldon syndrome Interprets Range of joint movement true Inferred relationship Some 3
Freeman-Sheldon syndrome Finding site Structure of joint region true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Danish translated concepts reference set (foundation metadata concept)

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