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59252009: Cutis laxa-corneal clouding-oligophrenia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
798074017 Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
98431015 Cutis laxa-corneal clouding-oligophrenia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
98432010 de Barsey syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
98433017 Progeroid syndrome of de Barsey en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
98435012 de Barsey-Moens-Dierckx syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
98436013 Cutis laxa, corneal clouding AND mental retardation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4032946010 A syndrome with characteristics of facial dysmorphism, a progeroid appearance, large and late closing fontanelle, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. 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
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) est un(e) (attribut) Cutis laxa, autosomal recessive (disorder) true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) est un(e) (attribut) Congenital corneal opacity true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) est un(e) (attribut) retard de développement true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) est un(e) (attribut) Joint laxity true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) est un(e) (attribut) Musculoskeletal and connective tissue disorder (disorder) true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) est un(e) (attribut) Congenital anomaly of face (disorder) true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) est un(e) (attribut) Arthropathy (disorder) true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) localisation d'une constatation (attribut) cornée (structure corporelle) true Inferred relationship Some 1
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) morphologie associée (attribut) opacité true Inferred relationship Some 1
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 2
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) localisation d'une constatation (attribut) Connective tissue structure true Inferred relationship Some 3
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 4
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) localisation d'une constatation (attribut) structure articulaire true Inferred relationship Some 5
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) est un(e) (attribut) mouvement athétoïde (constatation) true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) est un(e) (attribut) Hyperreflexia true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) interprète (attribut) Reflex true Inferred relationship Some 6
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) a pour interprétation (attribut) anormal true Inferred relationship Some 6
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) est un(e) (attribut) Disorder of proline AND/OR hydroxyproline metabolism true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) est un(e) (attribut) Congenital anomaly of head false Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system false Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) est un(e) (attribut) Disorder of skin AND/OR subcutaneous tissue of head (disorder) false Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) est un(e) (attribut) cutis laxa false Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) localisation d'une constatation (attribut) Connective tissue structure false Inferred relationship Some 2
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) localisation d'une constatation (attribut) Connective tissue false Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 3
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) localisation d'une constatation (attribut) structure de l'encéphale false Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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