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720514008: Arthrogryposis multiplex congenita and whistling face syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3321092011 Arthrogryposis multiplex congenita and whistling face syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3321093018 Arthrogryposis multiplex congenita and 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)
3321094012 Illum syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3321095013 An extremely rare type of arthrogryposis multiplex congenita with the combination of multiple joint contractures with movement limitation and microstomia with a whistling appearance of the mouth that may cause feeding, swallowing and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction, occasionally Pierre-Robin sequence and lethality generally occurring during the first months 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
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Finding site Face structure false Inferred relationship Some 3
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Associated morphology Contracture false Inferred relationship Some 5
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Is a Inherited arthrogryposis true Inferred relationship Some
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature (disorder) true Inferred relationship Some
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Is a Amyoplasia congenita disruptive sequence (disorder) true Inferred relationship Some
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Associated morphology dysgenese false Inferred relationship Some 4
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Finding site Joint structure false Inferred relationship Some 5
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Associated morphology dysgenese false Inferred relationship Some 3
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Finding site Joint structure false Inferred relationship Some 4
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Finding site Joint structure false Inferred relationship Some 2
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Associated morphology Contracture true Inferred relationship Some 2
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Finding site Face structure true Inferred relationship Some 1
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Interprets Range of joint movement true Inferred relationship Some 3
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Has interpretation Decreased true Inferred relationship Some 3
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Finding site Structure of joint region true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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