National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Inherited Bone Marrow Failure Syndrome

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94810

ALT_DEFINITION

A rare disorder in which a person's bone marrow is unable to make enough blood cells and there is a family history of the same disorder. There are several different types of inherited bone marrow failure syndrome, and patients with one of them are at high risk of forming acute leukemia or certain solid tumors.

code

C94810

DEFINITION

A group of inherited genetic hematopoietic stem cell disorders characterized by bone marrow failure that involves one or more cell lines. Representative examples include Fanconi anemia, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome.

FULL_SYN

IBMFS

label

Inherited Bone Marrow Failure Syndrome

Preferred_Name

Inherited Bone Marrow Failure Syndrome

prefixIRI

C94810

prefLabel

Inherited Bone Marrow Failure Syndrome

Semantic_Type

Disease or Syndrome

UMLS_CUI

C2986691

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C80693

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3266

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