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726620005: arthrogrypose-hyperkératose létale (trouble)


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
1009041000172115 syndrome de Johnston-Aarons-Schelley fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
1013551000172113 arthrogrypose-hyperkératose létale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3451038010 Arthrogryposis hyperkeratosis syndrome lethal form (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3451039019 Arthrogryposis hyperkeratosis syndrome lethal form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3451040017 Johnston Aarons Schelley syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
762221000241115 arthrogrypose-hyperkératose létale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core 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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
arthrogrypose-hyperkératose létale Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
arthrogrypose-hyperkératose létale survenue (attribut) congénital true Inferred relationship Some 2
arthrogrypose-hyperkératose létale survenue (attribut) congénital true Inferred relationship Some 1
arthrogrypose-hyperkératose létale est un(e) (attribut) Congenital anomaly of skin true Inferred relationship Some
arthrogrypose-hyperkératose létale Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
arthrogrypose-hyperkératose létale morphologie associée (attribut) Contracture (morphologic abnormality) true Inferred relationship Some 2
arthrogrypose-hyperkératose létale morphologie associée (attribut) Lesion (morphologic abnormality) true Inferred relationship Some 1
arthrogrypose-hyperkératose létale localisation d'une constatation (attribut) structure articulaire false Inferred relationship Some 2
arthrogrypose-hyperkératose létale localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 1
arthrogrypose-hyperkératose létale est un(e) (attribut) Skin lesion true Inferred relationship Some
arthrogrypose-hyperkératose létale interprète (attribut) Range of joint movement true Inferred relationship Some 4
arthrogrypose-hyperkératose létale a pour interprétation (attribut) Decreased true Inferred relationship Some 4
arthrogrypose-hyperkératose létale est un(e) (attribut) constatation fonctionnelle false Inferred relationship Some
arthrogrypose-hyperkératose létale localisation d'une constatation (attribut) Structure of joint region true Inferred relationship Some 2
arthrogrypose-hyperkératose létale morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 3
arthrogrypose-hyperkératose létale localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 3
arthrogrypose-hyperkératose létale est un(e) (attribut) Keratoderma true Inferred relationship Some
arthrogrypose-hyperkératose létale est un(e) (attribut) Amyoplasia congenita disruptive sequence true Inferred relationship Some
arthrogrypose-hyperkératose létale est un(e) (attribut) hyperkératose false Inferred relationship Some
arthrogrypose-hyperkératose létale est défini par la manifestation de (attribut) Abnormal keratinisation false Inferred relationship Some
arthrogrypose-hyperkératose létale survenue (attribut) congénital false Inferred relationship Some 4
arthrogrypose-hyperkératose létale localisation d'une constatation (attribut) structure articulaire false Inferred relationship Some 4
arthrogrypose-hyperkératose létale survenue (attribut) congénital false Inferred relationship Some 5
arthrogrypose-hyperkératose létale survenue (attribut) congénital false Inferred relationship Some 6
arthrogrypose-hyperkératose létale localisation d'une constatation (attribut) structure articulaire false Inferred relationship Some 5
arthrogrypose-hyperkératose létale morphologie associée (attribut) Lesion (morphologic abnormality) false Inferred relationship Some 6
arthrogrypose-hyperkératose létale localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 6
arthrogrypose-hyperkératose létale morphologie associée (attribut) Contracture (morphologic abnormality) false Inferred relationship Some 5
arthrogrypose-hyperkératose létale morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
arthrogrypose-hyperkératose létale a pour interprétation (attribut) anormal false Inferred relationship Some 3
arthrogrypose-hyperkératose létale interprète (attribut) Keratinization, function (observable entity) false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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