PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Combined Immunodeficiency

Synonyms
Definitions

A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.

ID

http://www.phoc.org.cn/pmo/class/PMO_00008605

Database_Cross_Reference

NCI:C27871

SNOMEDCT_US:191003005

MDR:10010098

CHV:0000037373

DO:DOID:628

MDR:10010100

ICD10CM:D81.9

ICD10AM:D81

CCPSS:0017291

RCD:C392z

ICD10:D81

ICD10:D81.9

HPO:HP:0005387

MEDCIN:333590

ICD10AM:D81.9

ICD9CM:279.2

ICD10CM:D81

MDR:10010099

Definition

A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.

label

Combined Immunodeficiency

MCID

MC00155917

PMOID

PMO:00008605

prefixIRI

pmo:PMO_00008605

prefLabel

Combined Immunodeficiency

Synonym

Combined immunodeficiency, unspecified

Combined immunity defic. NOS

Combined immunodeficiencies

Combined immunity deficiency NOS (disorder)

Combined immunity deficiency NOS

X-linked combined immunodeficiency

combined immunodeficiency syndrome

combined T cell and B cell immunodeficiency

combined immunodeficiency (diagnosis)

IMMUNODEFICIENCY COMBINED

combined immunity deficiency

Congenital Combined Immunodeficiency

Combined immunity defic

Combined immunodeficiency

Tree Number

T3.21.2.13.1

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00008602

http://www.phoc.org.cn/pmo/class/PMO_00037473

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