FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

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


Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core
5048421017 Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema en Synonym Active Initial character case insensitive SNOMED CT core
5048422012 Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphoedema en Synonym Active Initial character case insensitive SNOMED CT core
5048423019 CELSR1-related late-onset primary lymphedema en Synonym Active Case sensitive SNOMED CT core
5048424013 CELSR1-related late-onset primary lymphoedema en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
CELSR1-related late-onset primary lymphoedema Is a Primary lymphoedema true Inferred relationship Some
CELSR1-related late-onset primary lymphoedema Is a Genetic disease true Inferred relationship Some
CELSR1-related late-onset primary lymphoedema Finding site Limb structure true Inferred relationship Some 1
CELSR1-related late-onset primary lymphoedema Associated morphology Lymphatic oedema true Inferred relationship Some 1
CELSR1-related late-onset primary lymphoedema Pathological process Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start