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700057001: Emberger syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Edema of extremity (finding)\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\Emberger syndrome
\Finding of limb structure\Disorder of limb (disorder)\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\Emberger syndrome

\Mass of body structure\Mass of lymphoreticular structure\Neoplasm of bone marrow (disorder)\Myeloid leukemia\Acute myeloid leukemia, disease\Acute myeloid leukemia with myelodysplasia-related changes (disorder)\Emberger syndrome
\Mass of body structure\Mass of lymphoreticular structure\Neoplasm of bone marrow (disorder)\Acute leukemia\Acute myeloid leukemia, disease\Acute myeloid leukemia with myelodysplasia-related changes (disorder)\Emberger syndrome
\Mass of body structure\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\Leukaemia\Myeloid leukemia\Acute myeloid leukemia, disease\Acute myeloid leukemia with myelodysplasia-related changes (disorder)\Emberger syndrome
\Mass of body structure\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\Leukaemia\Acute leukemia\Acute myeloid leukemia, disease\Acute myeloid leukemia with myelodysplasia-related changes (disorder)\Emberger syndrome

\Oedema\Edema of extremity (finding)\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\Emberger syndrome
\Oedema\Disorder characterized by edema\Lymphoedema\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\Emberger syndrome

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

11845791000172118 syndrome d'Emberger fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

11845801000172117 syndrome de surdité, lymphœdème et leucémie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4036881000172112 syndroom van Emberger nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4036891000172110 doofheid-lymfoedeem-leukemiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4036901000172114 syndroom met doofheid, lymfoedeem en leukemie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4036911000172112 Emberger-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Emberger syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some
Emberger syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Emberger syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Emberger syndrome	Is a	Hereditary lymphedema	true	Inferred relationship	Some
Emberger syndrome	Is a	Auditory system hereditary disorder	false	Inferred relationship	Some
Emberger syndrome	Finding site	Structure of auditory system (body structure)	false	Inferred relationship	Some	1
Emberger syndrome	Occurrence	Congenital	false	Inferred relationship	Some	1
Emberger syndrome	Associated morphology	Lymphatic edema	true	Inferred relationship	Some	2
Emberger syndrome	Interprets	Hearing	false	Inferred relationship	Some	3
Emberger syndrome	Is a	Hereditary disorder by system	true	Inferred relationship	Some
Emberger syndrome	Finding site	Bone marrow structure	true	Inferred relationship	Some	1
Emberger syndrome	Associated morphology	Acute myeloid leukaemia myelodysplasia related	true	Inferred relationship	Some	1
Emberger syndrome	Is a	Acute myeloid leukemia with myelodysplasia-related changes (disorder)	true	Inferred relationship	Some
Emberger syndrome	Finding site	Limb structure	true	Inferred relationship	Some	2
Emberger syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
11845791000172118	syndrome d'Emberger	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
11845801000172117	syndrome de surdité, lymphœdème et leucémie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4036881000172112	syndroom van Emberger	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4036891000172110	doofheid-lymfoedeem-leukemiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4036901000172114	syndroom met doofheid, lymfoedeem en leukemie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4036911000172112	Emberger-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)