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788292004: Congenital lymphangiectasia (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3779772017 Congenital lymphangiectasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3779773010 Congenital lymphangiectasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3779774016 Congenital lymphangiectasis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3779775015 Congenital lymphangiectases en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5827181000241117 lymphangiectasie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

8 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital lymphangiectasia Occurrence Congenital true Inferred relationship Some 1
Congenital lymphangiectasia Finding site Structure of lymphatic vessel true Inferred relationship Some 1
Congenital lymphangiectasia Associated morphology Lymphangiectasis true Inferred relationship Some 1
Congenital lymphangiectasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital lymphangiectasia Is a Lymphatic malformation true Inferred relationship Some
Congenital lymphangiectasia Is a Lesion of soft tissue (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Hennekam lymphangiectasia-lymphedema syndrome (disorder) Is a True Congenital lymphangiectasia Inferred relationship Some
Congenital pulmonary lymphangiectasis Is a True Congenital lymphangiectasia Inferred relationship Some
An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterised by aplasia cutis congenita of the vertex and generalised oedema (as well as hypoproteinaemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. Is a True Congenital lymphangiectasia Inferred relationship Some
A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy. Is a True Congenital lymphangiectasia Inferred relationship Some
Congenital cutaneous lymphangiectasia Is a True Congenital lymphangiectasia Inferred relationship Some
Congenital lymphangiectasia with chylous reflux (disorder) Is a True Congenital lymphangiectasia Inferred relationship Some

Reference Sets

GB English

US English

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