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1260268001: Myelodysplastic syndrome with low blasts (disorder)


Status: current, 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
5159949015 Myelodysplastic syndrome with low blasts (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5159950015 Myelodysplastic syndrome with low blasts en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5159951016 Myelodysplastic neoplasm with low blasts en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5159952011 Refractory neutropenia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Myelodysplastic syndrome with low blasts (disorder) Is a Myelodysplastic syndrome (clinical) true Inferred relationship Some
Myelodysplastic syndrome with low blasts (disorder) Finding site Bone marrow structure true Inferred relationship Some 1
Myelodysplastic syndrome with low blasts (disorder) Associated morphology Myelodysplastic neoplasm with low blasts (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
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. Is a True Myelodysplastic syndrome with low blasts (disorder) Inferred relationship Some
Refractory thrombocytopenia (disorder) Is a True Myelodysplastic syndrome with low blasts (disorder) Inferred relationship Some
Myelodysplastic neoplasm with low blasts and SF3B1 mutation Is a True Myelodysplastic syndrome with low blasts (disorder) Inferred relationship Some
Myelodysplastic syndrome with ring sideroblasts and single lineage dysplasia (disorder) Is a True Myelodysplastic syndrome with low blasts (disorder) Inferred relationship Some

Reference Sets

Description inactivation indicator reference set

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