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763867001: Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder)

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
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
5404250016 A rare developmental defect during embryogenesis characterized by 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
5404251017 A rare developmental defect during embryogenesis characterised by 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
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
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
5404250016 A rare developmental defect during embryogenesis characterized by 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
5404251017 A rare developmental defect during embryogenesis characterised by 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
3381571001000113 Segmentaler Auswuchs-Lipomatose-arteriovenöse Fehlbildung-epidermaler Naevus-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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 Switzerland NRC maintained 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 Switzerland NRC maintained Module
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 Switzerland NRC maintained 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 Switzerland NRC maintained Module
3381571001000113 Segmentaler Auswuchs-Lipomatose-arteriovenöse Fehlbildung-epidermaler Naevus-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Is a Epidermal nevus (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Is a Herditary disorder of lymphatic system true Inferred relationship Existential restriction modifier (core metadata concept)
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Is a Congenital vascular malformation (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Is a Lipomatosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Is a PTEN hamartoma tumour syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Associated morphology Epidermal nevus true Inferred relationship Existential restriction modifier (core metadata concept) 4
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Finding site Blood vessel structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Finding site Structure of lymphatic system true Inferred relationship Existential restriction modifier (core metadata concept) 1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Associated morphology Lipomatosis true Inferred relationship Existential restriction modifier (core metadata concept) 2
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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