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763867001: syndrome d'hypertrophie segmentaire-lipomatose-malformation artérioveineuse-naevus épidermique (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1003641000172110 syndrome SOLAMEN (segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3644757012 SOLAMEN syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3644801011 Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3644802016 Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3644803014 Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
766701000241115 syndrome d'hypertrophie segmentaire-lipomatose-malformation artérioveineuse-naevus épidermique (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
946681000172113 syndrome d'hypertrophie segmentaire-lipomatose-malformation artérioveineuse-naevus épidermique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3664246013 A rare genetic, poly malformative syndrome with characteristics of progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems are also associated. Patients present an increased risk of developing cancer. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3777442015 A rare genetic, poly malformative syndrome with characteristics of progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal naevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems are also associated. Patients present an increased risk of developing cancer. 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
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 2
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome est un(e) (attribut) Epidermal nevus (disorder) true Inferred relationship Some
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome est un(e) (attribut) Hereditary disorder of lymphatic system (disorder) true Inferred relationship Some
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome est un(e) (attribut) Congenital vascular malformation (disorder) true Inferred relationship Some
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome est un(e) (attribut) lipomatose true Inferred relationship Some
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome est un(e) (attribut) syndrome tumoral hamartomateux lié à PTEN true Inferred relationship Some
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome survenue (attribut) congénital true Inferred relationship Some 4
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome morphologie associée (attribut) Epidermal nevus true Inferred relationship Some 4
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 4
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome survenue (attribut) congénital true Inferred relationship Some 1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome survenue (attribut) congénital true Inferred relationship Some 2
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome survenue (attribut) congénital true Inferred relationship Some 3
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome localisation d'une constatation (attribut) Blood vessel structure (body structure) true Inferred relationship Some 3
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome localisation d'une constatation (attribut) Structure of lymphatic system (body structure) true Inferred relationship Some 1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome morphologie associée (attribut) Lipomatosis true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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