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719845008: Van den Ende-Gupta 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
3318141014 Van den Ende-Gupta syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3318142019 Van den Ende-Gupta syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3318143012 Marden Walker like syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3318144018 A very rare syndrome with characteristics of blepharophimosis, arachnodactyly, joint contractures and dysmorphic features. Ten cases from seven families have been reported in the literature. The dysmorphic features include narrow nose with hypoplastic alae nasi, hypoplastic maxilla, everted lower lip, blepharophimosis, large ears and high-arched or cleft palate. The affected patients can have learning disabilities. The condition is transmitted as an autosomal recessive trait. 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
Van den Ende-Gupta syndrome (disorder) Is a Inherited arthrogryposis true Inferred relationship Some
Van den Ende-Gupta syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature (disorder) true Inferred relationship Some
Van den Ende-Gupta syndrome (disorder) Is a Amyoplasia congenita disruptive sequence (disorder) true Inferred relationship Some
Van den Ende-Gupta syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Van den Ende-Gupta syndrome (disorder) Associated morphology dysgenese false Inferred relationship Some 3
Van den Ende-Gupta syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Van den Ende-Gupta syndrome (disorder) Finding site Face structure false Inferred relationship Some 3
Van den Ende-Gupta syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Van den Ende-Gupta syndrome (disorder) Finding site Joint structure false Inferred relationship Some 4
Van den Ende-Gupta syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Van den Ende-Gupta syndrome (disorder) Finding site Joint structure false Inferred relationship Some 5
Van den Ende-Gupta syndrome (disorder) Associated morphology dysgenese false Inferred relationship Some 4
Van den Ende-Gupta syndrome (disorder) Associated morphology Contracture false Inferred relationship Some 5
Van den Ende-Gupta syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Van den Ende-Gupta syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Van den Ende-Gupta syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Van den Ende-Gupta syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Van den Ende-Gupta syndrome (disorder) Finding site Face structure true Inferred relationship Some 1
Van den Ende-Gupta syndrome (disorder) Finding site Joint structure false Inferred relationship Some 2
Van den Ende-Gupta syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Van den Ende-Gupta syndrome (disorder) Associated morphology Contracture true Inferred relationship Some 2
Van den Ende-Gupta syndrome (disorder) Interprets Range of joint movement true Inferred relationship Some 3
Van den Ende-Gupta syndrome (disorder) Has interpretation Decreased true Inferred relationship Some 3
Van den Ende-Gupta syndrome (disorder) Finding site Structure of joint region true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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