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726620005: Arthrogryposis hyperkeratosis syndrome lethal form (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3451038010 Arthrogryposis hyperkeratosis syndrome lethal form (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3451039019 Arthrogryposis hyperkeratosis syndrome lethal form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3451040017 Johnston Aarons Schelley syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3451041018 An arthrogryposis syndrome described in two siblings to date with the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin) and death occurring in early infancy. There have been no further reports in the literature since 1993. 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 hyperkeratosis syndrome lethal form (disorder) Is a Amyoplasia congenita disruptive sequence (disorder) true Inferred relationship Some
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Is a Hyperkeratose false Inferred relationship Some
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Some
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Occurrence Congenital false Inferred relationship Some 4
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Finding site Joint structure false Inferred relationship Some 4
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Occurrence Congenital false Inferred relationship Some 5
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Occurrence Congenital false Inferred relationship Some 6
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Finding site Joint structure false Inferred relationship Some 5
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Associated morphology Lesion (morphologic abnormality) false Inferred relationship Some 6
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Finding site Skin structure false Inferred relationship Some 6
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Associated morphology Contracture false Inferred relationship Some 5
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Associated morphology dysgenese false Inferred relationship Some 4
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Has interpretation Abnormal false Inferred relationship Some 3
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Interprets Keratinization false Inferred relationship Some 3
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Occurrence Congenital true Inferred relationship Some 2
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Occurrence Congenital true Inferred relationship Some 1
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Is a Congenital anomaly of skin true Inferred relationship Some
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Associated morphology Contracture true Inferred relationship Some 2
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Associated morphology Lesion (morphologic abnormality) true Inferred relationship Some 1
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Finding site Joint structure false Inferred relationship Some 2
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Finding site Skin structure true Inferred relationship Some 1
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Is a Skin lesion true Inferred relationship Some
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Interprets Range of joint movement true Inferred relationship Some 4
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Has interpretation Decreased true Inferred relationship Some 4
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Is a Functional finding false Inferred relationship Some
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Finding site Structure of joint region true Inferred relationship Some 2
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 3
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Finding site Skin structure true Inferred relationship Some 3
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Is a Keratoderma true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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