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


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

Descriptions:

Id Description Lang Type Status Case? Module
3321092011 Arthrogryposis multiplex congenita and whistling face syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3321093018 Arthrogryposis multiplex congenita and whistling face syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3321094012 Illum syndrome en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Arthrogryposis multiplex congenita and whistling face syndrome Finding site Face structure false Inferred relationship Existential restriction modifier 3
Arthrogryposis multiplex congenita and whistling face syndrome Associated morphology Contracture false Inferred relationship Existential restriction modifier 5
Arthrogryposis multiplex congenita and whistling face syndrome Is a Inherited arthrogryposis true Inferred relationship Existential restriction modifier
Arthrogryposis multiplex congenita and whistling face syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
Arthrogryposis multiplex congenita and whistling face syndrome Is a Amyoplasia congenita disruptive sequence true Inferred relationship Existential restriction modifier
Arthrogryposis multiplex congenita and whistling face syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Arthrogryposis multiplex congenita and whistling face syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 3
Arthrogryposis multiplex congenita and whistling face syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 4
Arthrogryposis multiplex congenita and whistling face syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 4
Arthrogryposis multiplex congenita and whistling face syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 5
Arthrogryposis multiplex congenita and whistling face syndrome Finding site Joint structure false Inferred relationship Existential restriction modifier 5
Arthrogryposis multiplex congenita and whistling face syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 3
Arthrogryposis multiplex congenita and whistling face syndrome Finding site Joint structure false Inferred relationship Existential restriction modifier 4
Arthrogryposis multiplex congenita and whistling face syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Arthrogryposis multiplex congenita and whistling face syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Arthrogryposis multiplex congenita and whistling face syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Arthrogryposis multiplex congenita and whistling face syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Arthrogryposis multiplex congenita and whistling face syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Arthrogryposis multiplex congenita and whistling face syndrome Finding site Joint structure false Inferred relationship Existential restriction modifier 2
Arthrogryposis multiplex congenita and whistling face syndrome Associated morphology Contracture true Inferred relationship Existential restriction modifier 2
Arthrogryposis multiplex congenita and whistling face syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 1
Arthrogryposis multiplex congenita and whistling face syndrome Interprets Range of joint movement true Inferred relationship Existential restriction modifier 3
Arthrogryposis multiplex congenita and whistling face syndrome Has interpretation Decreased true Inferred relationship Existential restriction modifier 3
Arthrogryposis multiplex congenita and whistling face syndrome Finding site Structure of joint region true Inferred relationship Existential restriction modifier 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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