Preferred Name

Congenital neutropenia
Synonyms

Kostmann's syndrome

Severe infantile genetic neutropenia

Severe infantile genetic agranulocytosis

ID

http://purl.bioontology.org/ontology/SNMI/DC-41240

altLabel

Kostmann's syndrome

Severe infantile genetic neutropenia

Severe infantile genetic agranulocytosis

cui

C1853118

C0340970

notation

DC-41240

prefLabel

Congenital neutropenia

SIC

288.0

tui

T047

T019

subClassOf

http://purl.bioontology.org/ontology/SNMI/DC-41200

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/MTHU008417 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10069819 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/MTHU070122 OMIM CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000285983 PDQ CUI
http://purl.bioontology.org/ontology/MDRFRE/10052210 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/D70.0 ICD10CM CUI
http://purl.bioontology.org/ontology/RCD/X20Df RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/89655007 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10052210 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10052213 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10052213 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10052213 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/89655007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10052210 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10069819 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD9CM/288.01 ICD9CM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU074033 OMIM CUI
http://purl.bioontology.org/ontology/ICD10CM/D70.0 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/89655007 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C537592 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10069819 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/89655007 SNOMEDCT CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Congenital_Neutropenia CSEO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10069819 MEDDRA LOOM
http://purl.bioontology.org/ontology/ICD9CM/288.01 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/288.01 NLMVS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61242 NCIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0340970 OCHV LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU074033 OMIM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00008258 PMAPP-PMO LOOM
http://www.orpha.net/ORDO/Orphanet_101987 ORDO LOOM
http://purl.obolibrary.org/obo/NCIT_C61242 BERO LOOM
http://purl.jp/bio/4/id/200906099106195423 IOBC LOOM
http://purl.bioontology.org/ontology/RCTV2/D400500 RCTV2 LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/89655007 SNOMEDCT LOOM