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1222666002: Ephrin receptor B4-related lymphatic-related hydrops fetalis (disorder)


Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5048396017 Ephrin receptor B4-related lymphatic-related hydrops fetalis en Synonym Active Initial character case insensitive SNOMED CT core
5048397014 Ephrin receptor B4-related lymphatic-related hydrops fetalis (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
5048398016 EPHB4-related lymphatic-related hydrops fetalis en Synonym Active Case sensitive SNOMED CT core
5048401018 EPHB4-related generalised lymphatic dysplasia with non-immune hydrops fetalis en Synonym Active Case sensitive SNOMED CT core
5048402013 EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis en Synonym Active Case sensitive SNOMED CT core
5048403015 EPHB4-related generalised lymphatic dysplasia with atrial septal defect en Synonym Active Case sensitive SNOMED CT core
5048404014 EPHB4-related generalized lymphatic dysplasia with atrial septal defect en Synonym Active Case sensitive SNOMED CT core
5048399012 A rare primary lymphoedema characterised by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral oedema and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients. en Definition Active Case sensitive SNOMED CT core
5048400017 A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
EPHB4-related lymphatic-related hydrops fetalis Is a Primary lymphoedema true Inferred relationship Some
EPHB4-related lymphatic-related hydrops fetalis Is a Genetic disease true Inferred relationship Some
EPHB4-related lymphatic-related hydrops fetalis Finding site Limb structure true Inferred relationship Some 1
EPHB4-related lymphatic-related hydrops fetalis Associated morphology Lymphatic oedema true Inferred relationship Some 1
EPHB4-related lymphatic-related hydrops fetalis 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

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