128836009: Myelodysplastic syndrome with multilineage dysplasia (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

207429012 Refractory cytopenia with multilineage dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3009266015 Refractory cytopenia of childhood en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4953715014 Myelodysplastic syndrome with multilineage dysplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4953716010 Myelodysplastic syndrome with multilineage dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2539391000005116 Refraktær cytopeni med multilinjedysplasi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Refraktær cytopeni med multilinjedysplasi	Is a	Neoplasme, malignt (primært)	false	Inferred relationship	Some
Refraktær cytopeni med multilinjedysplasi	Is a	Myelodysplastic syndrome	false	Inferred relationship	Some
Refraktær cytopeni med multilinjedysplasi	Is a	Myelodysplastic neoplasm	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
refraktær cytopeni med multilinjedysplasi og sideroblaster	Is a	False	Refraktær cytopeni med multilinjedysplasi	Inferred relationship	Some
Refraktær cytopeni med multilineær dysplasi	Associated morphology	False	Refraktær cytopeni med multilinjedysplasi	Inferred relationship	Some	1
Refraktær cytopeni med multilineær dysplasi	Associated morphology	False	Refraktær cytopeni med multilinjedysplasi	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by early-onset progressive bone marrow failure with anemia, leukopenia, mild thrombopenia, and myelodysplastic features, as well as non-hematologic manifestations, such as developmental delay, cataracts, facial dysmorphism, short stature, and skeletal anomalies. Immunodeficiency primarily affects B-cells and may lead to increased susceptibility to infections. Additional reported features include dry skin and eczema, cardiac anomalies, hearing loss, and reduction of cerebral volume on brain imaging.	Associated morphology	False	Refraktær cytopeni med multilinjedysplasi	Inferred relationship	Some	1

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)