1172625004: DEAD-box helicase 41-related hematologic malignancy predisposition syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\...

\Hereditary cancer-predisposing syndrome\DDX41-related hematologic malignancy predisposition syndrome

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\DDX41-related hematologic malignancy predisposition syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4634833013 DDX41-related hematologic malignancy predisposition syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4634834019 DEAD-box helicase 41-related hematologic malignancy predisposition syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4634835018 DDX41-related haematologic malignancy predisposition syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4634836017 DEAD-box helicase 41-related hematologic malignancy predisposition syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4634837014 DEAD-box helicase 41-related haematologic malignancy predisposition syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4634838016 A rare inherited cancer-predisposing syndrome characterised by adult onset of haematologic malignancies mainly affecting the myeloid lineage (such as myelodysplastic syndrome and/or acute myeloid leukaemia), less frequently lymphoid malignancies. Some patients have been reported to develop granulomatous or immune disorders (including sarcoidosis, systemic lupus erythematosus, asthma, eczema, or juvenile arthritis) before or in the absence of haematologic malignancies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4634839012 A rare inherited cancer-predisposing syndrome characterized by adult onset of hematologic malignancies mainly affecting the myeloid lineage (such as myelodysplastic syndrome and/or acute myeloid leukemia), less frequently lymphoid malignancies. Some patients have been reported to develop granulomatous or immune disorders (including sarcoidosis, systemic lupus erythematosus, asthma, eczema, or juvenile arthritis) before or in the absence of hematologic malignancies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

10768811000172112 syndrome de prédisposition aux hémopathies malignes lié à l'hélicase DEAD-box 41 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7259451000172114 syndroom van 'DEAD-box helicase 41'-gerelateerde predispositie voor hematologische maligniteit nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7259461000172111 syndroom van DDX41-gerelateerde predispositie voor hematologische maligniteit nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
DDX41-related hematologic malignancy predisposition syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
DDX41-related hematologic malignancy predisposition syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4634833013	DDX41-related hematologic malignancy predisposition syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634834019	DEAD-box helicase 41-related hematologic malignancy predisposition syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634835018	DDX41-related haematologic malignancy predisposition syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634836017	DEAD-box helicase 41-related hematologic malignancy predisposition syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634837014	DEAD-box helicase 41-related haematologic malignancy predisposition syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634838016	A rare inherited cancer-predisposing syndrome characterised by adult onset of haematologic malignancies mainly affecting the myeloid lineage (such as myelodysplastic syndrome and/or acute myeloid leukaemia), less frequently lymphoid malignancies. Some patients have been reported to develop granulomatous or immune disorders (including sarcoidosis, systemic lupus erythematosus, asthma, eczema, or juvenile arthritis) before or in the absence of haematologic malignancies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634839012	A rare inherited cancer-predisposing syndrome characterized by adult onset of hematologic malignancies mainly affecting the myeloid lineage (such as myelodysplastic syndrome and/or acute myeloid leukemia), less frequently lymphoid malignancies. Some patients have been reported to develop granulomatous or immune disorders (including sarcoidosis, systemic lupus erythematosus, asthma, eczema, or juvenile arthritis) before or in the absence of hematologic malignancies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10768811000172112	syndrome de prédisposition aux hémopathies malignes lié à l'hélicase DEAD-box 41	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7259451000172114	syndroom van 'DEAD-box helicase 41'-gerelateerde predispositie voor hematologische maligniteit	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7259461000172111	syndroom van DDX41-gerelateerde predispositie voor hematologische maligniteit	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)