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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
3425566016 Distal arthrogryposis type 2A en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
439071000241117 syndrome de Freeman-Sheldon (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
790645014 Freeman-Sheldon syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
872631000172117 syndrome de Freeman-Sheldon fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
87570012 Freeman-Sheldon syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
87571011 Whistling face syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
900051000172119 arthrogrypose distale type 2A fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core 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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
syndrome de Freeman-Sheldon (trouble) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
syndrome de Freeman-Sheldon (trouble) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
syndrome de Freeman-Sheldon (trouble) est un(e) (attribut) Congenital anomaly of bone and joint false Inferred relationship Some
syndrome de Freeman-Sheldon (trouble) est un(e) (attribut) Inherited arthrogryposis false Inferred relationship Some
syndrome de Freeman-Sheldon (trouble) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
syndrome de Freeman-Sheldon (trouble) a pour interprétation (attribut) Decreased true Inferred relationship Some 3
syndrome de Freeman-Sheldon (trouble) interprète (attribut) Range of joint movement true Inferred relationship Some 3
syndrome de Freeman-Sheldon (trouble) localisation d'une constatation (attribut) Structure of joint region true Inferred relationship Some 1
syndrome de Freeman-Sheldon (trouble) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 2
syndrome de Freeman-Sheldon (trouble) est un(e) (attribut) Autosomal dominant hereditary disorder false Inferred relationship Some
syndrome de Freeman-Sheldon (trouble) est un(e) (attribut) Congenital anomaly of face bones true Inferred relationship Some
syndrome de Freeman-Sheldon (trouble) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
syndrome de Freeman-Sheldon (trouble) est un(e) (attribut) Hereditary disorder of nervous system false Inferred relationship Some
syndrome de Freeman-Sheldon (trouble) localisation d'une constatation (attribut) os de la face (structure corporelle) false Inferred relationship Some 2
syndrome de Freeman-Sheldon (trouble) morphologie associée (attribut) Congenital malformation false Inferred relationship Some 1
syndrome de Freeman-Sheldon (trouble) est un(e) (attribut) Multiple malformation syndrome with unusual brain and/or neuromuscular findings false Inferred relationship Some
syndrome de Freeman-Sheldon (trouble) est un(e) (attribut) Congenital anomaly of face false Inferred relationship Some
syndrome de Freeman-Sheldon (trouble) morphologie associée (attribut) Congenital malformation false Inferred relationship Some 2
syndrome de Freeman-Sheldon (trouble) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
syndrome de Freeman-Sheldon (trouble) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 3
syndrome de Freeman-Sheldon (trouble) localisation d'une constatation (attribut) crâne (structure corporelle) false Inferred relationship Some 3
syndrome de Freeman-Sheldon (trouble) morphologie associée (attribut) Congenital malformation false Inferred relationship Some 2
syndrome de Freeman-Sheldon (trouble) morphologie associée (attribut) Congenital malformation false Inferred relationship Some 3
syndrome de Freeman-Sheldon (trouble) localisation d'une constatation (attribut) os de la face (structure corporelle) false Inferred relationship Some 1
syndrome de Freeman-Sheldon (trouble) morphologie associée (attribut) Congenital malformation false Inferred relationship Some 1
syndrome de Freeman-Sheldon (trouble) survenue (attribut) congénital true Inferred relationship Some 2
syndrome de Freeman-Sheldon (trouble) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
syndrome de Freeman-Sheldon (trouble) localisation d'une constatation (attribut) os de la face (structure corporelle) true Inferred relationship Some 2
syndrome de Freeman-Sheldon (trouble) survenue (attribut) congénital true Inferred relationship Some 1
syndrome de Freeman-Sheldon (trouble) est un(e) (attribut) Distal arthrogryposis syndrome true Inferred relationship Some
syndrome de Freeman-Sheldon (trouble) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
syndrome de Freeman-Sheldon (trouble) morphologie associée (attribut) Contracture (morphologic abnormality) true Inferred relationship Some 1
syndrome de Freeman-Sheldon (trouble) localisation d'une constatation (attribut) structure articulaire false Inferred relationship Some 1
syndrome de Freeman-Sheldon (trouble) localisation d'une constatation (attribut) face false Inferred relationship Some
syndrome de Freeman-Sheldon (trouble) localisation d'une constatation (attribut) structure de l'encéphale false Inferred relationship Some 3
syndrome de Freeman-Sheldon (trouble) survenue (attribut) congénital false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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