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771511005: thrombocytémie avec anomalies distales des membres (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3706560019 Familial thrombocytosis with transverse limb defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706561015 Thrombocythemia with distal limb defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706562010 Thrombocythemia with distal limb defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706563017 Hereditary thrombocytosis with transverse limb defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706564011 Thrombocythaemia with distal limb defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
770831000241110 thrombocytémie avec anomalies distales des membres (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
934101000172117 thrombocytose familiale avec anomalie réductionnelle transverse des membres fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
974901000172117 thrombocytémie avec anomalies distales des membres fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3706565012 A rare genetic syndrome with limb reduction defects with characteristics of thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly. 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
Thrombocythemia with distal limb defect (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 3
Thrombocythemia with distal limb defect (disorder) est un(e) (attribut) Dysostosis true Inferred relationship Some
Thrombocythemia with distal limb defect (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Thrombocythemia with distal limb defect (disorder) est un(e) (attribut) Thrombocytosis true Inferred relationship Some
Thrombocythemia with distal limb defect (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Thrombocythemia with distal limb defect (disorder) est un(e) (attribut) Spleen finding true Inferred relationship Some
Thrombocythemia with distal limb defect (disorder) est un(e) (attribut) Congenital anomaly of limb true Inferred relationship Some
Thrombocythemia with distal limb defect (disorder) est un(e) (attribut) anomalie plaquettaire héréditaire true Inferred relationship Some
Thrombocythemia with distal limb defect (disorder) est un(e) (attribut) splénomégalie congénitale true Inferred relationship Some
Thrombocythemia with distal limb defect (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Thrombocythemia with distal limb defect (disorder) localisation d'une constatation (attribut) Bone structure of extremity true Inferred relationship Some 3
Thrombocythemia with distal limb defect (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Thrombocythemia with distal limb defect (disorder) morphologie associée (attribut) Congenital enlargement (morphologic abnormality) false Inferred relationship Some 2
Thrombocythemia with distal limb defect (disorder) localisation d'une constatation (attribut) Entire spleen true Inferred relationship Some 2
Thrombocythemia with distal limb defect (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Thrombocythemia with distal limb defect (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Thrombocythemia with distal limb defect (disorder) a pour interprétation (attribut) au-dessus de l'étendue de référence true Inferred relationship Some 1
Thrombocythemia with distal limb defect (disorder) interprète (attribut) Platelet count true Inferred relationship Some 1
Thrombocythemia with distal limb defect (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 3
Thrombocythemia with distal limb defect (disorder) interprète (attribut) Hemostatic function (observable entity) true Inferred relationship Some 4
Thrombocythemia with distal limb defect (disorder) a pour interprétation (attribut) anormal false Inferred relationship Some 4
Thrombocythemia with distal limb defect (disorder) morphologie associée (attribut) Enlargement (morphologic abnormality) true Inferred relationship Some 2
Thrombocythemia with distal limb defect (disorder) a pour interprétation (attribut) anormal true Inferred relationship Some 4
Thrombocythemia with distal limb defect (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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