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38804009: Turner 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
221781000172111 syndrome de Turner fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
424291000241110 syndrome de Turner (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
491780017 Turner's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
491784014 TS - Turner's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
65082016 Turner syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
65084015 Pterygolymphangiectasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
65085019 Bonnevie-Ullrich syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
65087010 Gonadal dysgenesis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
775137014 Turner syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core


10 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
syndrome de Turner est un(e) (attribut) Disorder of male genital organ (disorder) false Inferred relationship Some
syndrome de Turner est un(e) (attribut) Disorder of testis false Inferred relationship Some
syndrome de Turner est un(e) (attribut) Sex chromosome abnormality - female phenotype true Inferred relationship Some
syndrome de Turner est un(e) (attribut) Anomaly of chromosome X true Inferred relationship Some
syndrome de Turner est un(e) (attribut) Congenital anomaly of perineum false Inferred relationship Some
syndrome de Turner est un(e) (attribut) trouble de l'appareil génito-urinaire false Inferred relationship Some
syndrome de Turner est un(e) (attribut) Disorder of reproductive system false Inferred relationship Some
syndrome de Turner est un(e) (attribut) Disorder of body cavity (disorder) false Inferred relationship Some
syndrome de Turner est un(e) (attribut) Disorder of female reproductive system (disorder) false Inferred relationship Some
syndrome de Turner est un(e) (attribut) affection abdominale false Inferred relationship Some
syndrome de Turner localisation d'une constatation (attribut) ovaire (structure corporelle) false Inferred relationship Some
syndrome de Turner localisation d'une constatation (attribut) Sex chromosome X (cell structure) false Inferred relationship Some 2
syndrome de Turner morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 2
syndrome de Turner morphologie associée (attribut) Chromosomal morphology false Inferred relationship Some 1
syndrome de Turner localisation d'une constatation (attribut) Sex chromosome X (cell structure) false Inferred relationship Some 1
syndrome de Turner localisation d'une constatation (attribut) Sex chromosome X (cell structure) false Inferred relationship Some 2
syndrome de Turner localisation d'une constatation (attribut) Sex chromosome X (cell structure) false Inferred relationship Some 2
syndrome de Turner localisation d'une constatation (attribut) Sex chromosome X (cell structure) false Inferred relationship Some 1
syndrome de Turner localisation d'une constatation (attribut) Sex chromosome X (cell structure) false Inferred relationship Some 2
syndrome de Turner localisation d'une constatation (attribut) Sex chromosome X (cell structure) false Inferred relationship Some 1
syndrome de Turner localisation d'une constatation (attribut) Sex chromosome X (cell structure) false Inferred relationship Some 1
syndrome de Turner localisation d'une constatation (attribut) Sex chromosome X (cell structure) false Inferred relationship Some 2
syndrome de Turner localisation d'une constatation (attribut) Sex chromosome X (cell structure) false Inferred relationship Some 1
syndrome de Turner localisation d'une constatation (attribut) Sex chromosome X (cell structure) false Inferred relationship Some 2
syndrome de Turner morphologie associée (attribut) Congenital anomaly false Inferred relationship Some
syndrome de Turner morphologie associée (attribut) Chromosomal morphology false Inferred relationship Some
syndrome de Turner survenue (attribut) congénital false Inferred relationship Some 1
syndrome de Turner morphologie associée (attribut) Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
syndrome de Turner localisation d'une constatation (attribut) Sex chromosome X (cell structure) false Inferred relationship Some 1
syndrome de Turner survenue (attribut) congénital true Inferred relationship Some 2
syndrome de Turner localisation d'une constatation (attribut) Sex chromosome X (cell structure) true Inferred relationship Some 2
syndrome de Turner morphologie associée (attribut) Chromosomal morphology true Inferred relationship Some 2
syndrome de Turner localisation d'une constatation (attribut) testicule (structure corporelle) false Inferred relationship Some
syndrome de Turner survenue (attribut) congénital false Inferred relationship Some
syndrome de Turner morphologie associée (attribut) Alteration of chromosome structure false Inferred relationship Some
syndrome de Turner localisation d'une constatation (attribut) Sex chromosome X (cell structure) false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Mosaicism 45, X; 46, XX est un(e) (attribut) False syndrome de Turner Inferred relationship Some
Karyotype 46, X iso (Xq) est un(e) (attribut) True syndrome de Turner Inferred relationship Some
Karyotype 46, X with abnormal sex chromosome except iso (Xq) est un(e) (attribut) True syndrome de Turner Inferred relationship Some
Mosaicism 45, X / other cell line with abnormal sex chromosome est un(e) (attribut) False syndrome de Turner Inferred relationship Some
Mixed gonadal dysgenesis est un(e) (attribut) False syndrome de Turner Inferred relationship Some
Turner's phenotype, karyotype normal est un(e) (attribut) True syndrome de Turner Inferred relationship Some
Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY est un(e) (attribut) False syndrome de Turner Inferred relationship Some
Turner's phenotype, partial X deletion karyotype est un(e) (attribut) True syndrome de Turner Inferred relationship Some
[X]Other variants of Turner's syndrome est un(e) (attribut) False syndrome de Turner Inferred relationship Some
Ovarian dwarfism NEC est un(e) (attribut) False syndrome de Turner Inferred relationship Some
Bonnevie-Ullrich syndrome NOS est un(e) (attribut) False syndrome de Turner Inferred relationship Some
Turner's phenotype, other variant karyotypes est un(e) (attribut) False syndrome de Turner Inferred relationship Some
Turner's syndrome NOS est un(e) (attribut) False syndrome de Turner Inferred relationship Some
Fetus with Turner syndrome est un(e) (attribut) False syndrome de Turner Inferred relationship Some
Monosomy X est un(e) (attribut) True syndrome de Turner Inferred relationship Some
Mosaic Turner syndrome (disorder) est un(e) (attribut) True syndrome de Turner Inferred relationship Some
Family history of Turner syndrome (situation) constatation associée (attribut) True syndrome de Turner Inferred relationship Some 1
Turner's phenotype - ring chromosome karyotype est un(e) (attribut) True syndrome de Turner Inferred relationship Some

Reference Sets

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

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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