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1222668001: Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5048420016 Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5048421017 Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5048422012 Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphoedema en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5048423019 CELSR1-related late-onset primary lymphedema en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048424013 CELSR1-related late-onset primary lymphoedema en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048425014 A rare genetic primary lymphoedema characterised by unilateral or bilateral lower limb lymphoedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048426010 A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux. 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
Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema (disorder) est un(e) (attribut) Primary lymphedema true Inferred relationship Some
Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema (disorder) est un(e) (attribut) Genetic disease true Inferred relationship Some
Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema (disorder) localisation d'une constatation (attribut) structure d'un membre true Inferred relationship Some 1
Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema (disorder) morphologie associée (attribut) Lymphatic oedema true Inferred relationship Some 1
Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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