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


Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3644757012 SOLAMEN syndrome en Synonym Active Case sensitive SNOMED CT core
3644801011 Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome en Synonym Active Case insensitive SNOMED CT core
3644802016 Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3644803014 Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome en Synonym Active Case insensitive SNOMED CT core
4196361000168113 Segmental outgrowth, lipomatosis, AVM (arteriovenous malformation), epidermal naevus syndrome en Synonym Active Initial character case insensitive SNOMED Clinical Terms Australian extension
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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Pathological process Pathological developmental process false Inferred relationship Some 4
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Finding site Skin structure true Inferred relationship Some 2
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Is a Epidermal naevus true Inferred relationship Some
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Is a Hereditary disorder of lymphatic system true Inferred relationship Some
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Is a Congenital vascular malformation true Inferred relationship Some
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Is a Lipomatosis true Inferred relationship Some
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Is a PTEN hamartoma tumour syndrome true Inferred relationship Some
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Occurrence Congenital true Inferred relationship Some 4
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Associated morphology Epidermal naevus true Inferred relationship Some 4
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Finding site Skin structure true Inferred relationship Some 4
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Occurrence Congenital true Inferred relationship Some 1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Occurrence Congenital true Inferred relationship Some 2
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Occurrence Congenital true Inferred relationship Some 3
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Associated morphology Developmental abnormality false Inferred relationship Some 3
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Associated morphology Developmental abnormality false Inferred relationship Some 1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Finding site Blood vessel structure true Inferred relationship Some 3
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Finding site Structure of lymphatic system true Inferred relationship Some 1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Associated morphology Lipomatosis true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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