PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Congenital Agranulocytosis
Synonyms
Definitions

Congenital onset of a marked decrease in the number of granulocytes.

ID

http://www.phoc.org.cn/pmo/class/PMO_00008358

Database_Cross_Reference

CHV:0000030634

MTH:NOCODE

MDR:10052213

NCI:C61242

SNOMEDCT_US:89655007

MEDCIN:273737

MDR:10052210

MSH:C537592

MTHICD9:288.01

NCI_NCI-GLOSS:CDR0000644749

NCI_NCI-GLOSS:CDR0000661341

PDQ:CDR0000285983

SNOMEDCT_US:191336001

SNM:D-4358

OMIM:605998

NCI_NCI-GLOSS:CDR0000644748

OMIM:MTHU008417

RCD:X20Df

NCI_NCI-GLOSS:CDR0000644747

OMIM:610738

HPO:HP:0005549

NCI_NCI-GLOSS:CDR0000661340

SNMI:DC-41240

ICD10CM:D70.0

NCI_NCI-GLOSS:CDR0000644750

HPO:HP:0005541

Definition

Congenital onset of a marked decrease in the number of granulocytes.

label

Congenital Agranulocytosis

MCID

MC00611450

PMOID

PMO:00008358

prefixIRI

pmo:PMO_00008358

prefLabel

Congenital Agranulocytosis

Synonym

Neutropenia, Severe Congenital, Autosomal Recessive 3

Kostmann's disease

Kostmann's Agranulocytosis

Kostmann syndrome

Low blood neutrophil level since birth

Infantile genetic agranulocytosis

congenital agranulocytosis

Agranulocytosis, infantile genetic

Infant genetic agranulocytosis

SCN3

Primary neutropenia

NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE

Agranulocytosis, Infantile

Congenital Neutropenia

Kostmann Disease

Severe infantile genetic agranulocytosis

infantile genetic agranulocytosis (diagnosis)

Kostmann's syndrome

Severe infantile genetic neutropenia

Kostmann neutropenia

agranulocytosis genetic infantile

agranulocytosis infantile genetic

Severe congenital neutropenia

genetic infantile agranulocytosis

Tree Number

T3.21.3.1.1.3.3.1.1

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00085925

http://www.phoc.org.cn/pmo/class/PMO_00085919

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