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723512008: syndrome de Revesz (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
3424891015 Revesz syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424892010 Revesz syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424893017 Dyskeratosis congenita with bilateral exudative retinopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424894011 Retinopathy, anemia, central nervous system anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424895012 Retinopathy, anaemia, central nervous system anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424896013 Revesz DeBuse syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
759691000241119 syndrome de Revesz (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
938611000172116 dyskératose congénitale avec rétinopathie exsudative bilatérale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
974211000172112 syndrome de Revesz fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3424897016 A rare severe phenotypic variant of dyskeratosis congenita with onset in early childhood. The syndrome has features of dyskeratosis congenita (for example skin hyper/hypopigmentation, nail dystrophy, high risk of bone marrow failure and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy and intracranial calcifications. 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
Revesz syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Revesz syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 7
Revesz syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Revesz syndrome (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) false Inferred relationship Some 9
Revesz syndrome (disorder) a pour interprétation (attribut) anormal false Inferred relationship Some 8
Revesz syndrome (disorder) interprète (attribut) Hemostatic function (observable entity) false Inferred relationship Some 8
Revesz syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure true Inferred relationship Some 11
Revesz syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 11
Revesz syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 11
Revesz syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 11
Revesz syndrome (disorder) a pour interprétation (attribut) anormal true Inferred relationship Some 9
Revesz syndrome (disorder) interprète (attribut) Hemostatic function (observable entity) true Inferred relationship Some 9
Revesz syndrome (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 8
Revesz syndrome (disorder) est un(e) (attribut) Constitutional aplastic anaemia true Inferred relationship Some
Revesz syndrome (disorder) est un(e) (attribut) trouble rétinien (trouble) true Inferred relationship Some
Revesz syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Revesz syndrome (disorder) est un(e) (attribut) troubles héréditaires des éléments figurés du sang false Inferred relationship Some
Revesz syndrome (disorder) est un(e) (attribut) Autosomal dominant dyskeratosis congenita (disorder) true Inferred relationship Some
Revesz syndrome (disorder) est défini par la manifestation de (attribut) cytopénie (constatation) false Inferred relationship Some
Revesz syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Revesz syndrome (disorder) localisation d'une constatation (attribut) structure de la rétine false Inferred relationship Some 5
Revesz syndrome (disorder) morphologie associée (attribut) Aplasia false Inferred relationship Some 6
Revesz syndrome (disorder) localisation d'une constatation (attribut) Bone marrow structure false Inferred relationship Some 6
Revesz syndrome (disorder) morphologie associée (attribut) Dyskeratosis true Inferred relationship Some 7
Revesz syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 7
Revesz syndrome (disorder) localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 7
Revesz syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Revesz syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 8
Revesz syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 7
Revesz syndrome (disorder) morphologie associée (attribut) Dyskeratosis false Inferred relationship Some 8
Revesz syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 6
Revesz syndrome (disorder) localisation d'une constatation (attribut) structure de la rétine true Inferred relationship Some 6
Revesz syndrome (disorder) morphologie associée (attribut) Aplasia true Inferred relationship Some 5
Revesz syndrome (disorder) localisation d'une constatation (attribut) Bone marrow structure true Inferred relationship Some 5
Revesz syndrome (disorder) a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 2
Revesz syndrome (disorder) a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 3
Revesz syndrome (disorder) a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 1
Revesz syndrome (disorder) est un(e) (attribut) Hereditary white blood cell disorder (disorder) true Inferred relationship Some
Revesz syndrome (disorder) est un(e) (attribut) anomalie plaquettaire héréditaire true Inferred relationship Some
Revesz syndrome (disorder) Due to Decreased erythrocyte production true Inferred relationship Some 10
Revesz syndrome (disorder) a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 4
Revesz syndrome (disorder) interprète (attribut) White blood cell count true Inferred relationship Some 2
Revesz syndrome (disorder) interprète (attribut) Platelet count true Inferred relationship Some 3
Revesz syndrome (disorder) interprète (attribut) Measurement of total haemoglobin concentration true Inferred relationship Some 1
Revesz syndrome (disorder) interprète (attribut) Red blood cell count true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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