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700057001: Emberger syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2988911010 Emberger syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2988917014 Emberger syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3789196014 Deafness - lymphedema - leukemia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3789197017 Deafness - lymphoedema - leukaemia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4551458016 A rare genetic disease with characteristics of the association of primary lymphedema (typically presenting in one or both lower limbs and frequently affecting the genitalia) and acute myeloid leukemia (often preceded by pancytopenia or myelodysplasia), with or without congenital deafness. Additional reported features include bilateral syndactyly of the toes, hypotelorism and epicanthic folds, long tapering fingers, and neck webbing. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4551459012 A rare genetic disease with characteristics of the association of primary lymphoedema (typically presenting in one or both lower limbs and frequently affecting the genitalia) and acute myeloid leukaemia (often preceded by pancytopenia or myelodysplasia), with or without congenital deafness. Additional reported features include bilateral syndactyly of the toes, hypotelorism and epicanthic folds, long tapering fingers, and neck webbing. 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
Emberger syndrome est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Emberger syndrome est un(e) (attribut) Congenital hearing disorder false Inferred relationship Some
Emberger syndrome est un(e) (attribut) lymphœdème héréditaire true Inferred relationship Some
Emberger syndrome est un(e) (attribut) Auditory system hereditary disorder false Inferred relationship Some
Emberger syndrome localisation d'une constatation (attribut) structure du système auditif false Inferred relationship Some 1
Emberger syndrome survenue (attribut) congénital false Inferred relationship Some 1
Emberger syndrome morphologie associée (attribut) Lymphatic oedema true Inferred relationship Some 2
Emberger syndrome interprète (attribut) Hearing, function (observable entity) false Inferred relationship Some 3
Emberger syndrome est un(e) (attribut) Hereditary disorder by system true Inferred relationship Some
Emberger syndrome localisation d'une constatation (attribut) Bone marrow structure true Inferred relationship Some 1
Emberger syndrome morphologie associée (attribut) Acute myeloid leukaemia with myelodysplasia-related changes true Inferred relationship Some 1
Emberger syndrome est un(e) (attribut) Acute myeloid leukemia with myelodysplasia-related changes (disorder) true Inferred relationship Some
Emberger syndrome localisation d'une constatation (attribut) structure d'un membre true Inferred relationship Some 2
Emberger syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Emberger syndrome est un(e) (attribut) syndrome familial avec prédisposition aux cancers (trouble) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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