Preferred Name

Severe Combined Immunodeficiency

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3472

ALT_DEFINITION

A rare, inherited disease that is marked by a lack of B lymphocytes (white blood cells that make antibodies and help fight infections) and a lack of T lymphocytes (white blood cells that attack virus-infected cells, foreign cells, and cancer cells). Patients with this disease have a high risk of developing viral, bacterial, and fungal infections.

X-linked or autosomal recessive disorder characterized by defects of both humoral and cell mediated immunity, resulting in low or absent antibody levels, leukopenia, marked susceptibility to infections, and early death.--2004

code

C3472

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C189762

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118464

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

Contributing_Source

MedDRA

NICHD

CTRP

Cellosaurus

DEFINITION

X-linked or autosomal recessive disorder characterized by defects of both humoral and cell mediated immunity, resulting in low or absent antibody levels, leukopenia, marked susceptibility to infections, and early death.--2004

Display_Name

Severe Combined Immunodeficiency

FULL_SYN

SCID

Severe Combined Immunodeficiency

severe combined immunodeficiency disease

Severe Combined Immune Deficiency

label

Severe Combined Immunodeficiency

Legacy Concept Name

Severe_Combined_Immunodeficiency

Maps_To

Severe combined immunodeficiency syndrome

Preferred_Name

Severe Combined Immunodeficiency

prefixIRI

Thesaurus:C3472

prefLabel

Severe Combined Immunodeficiency

Semantic_Type

Disease or Syndrome

UMLS_CUI

C3806381

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27871

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http://purl.obolibrary.org/obo/HP_0004430 Coronavirus Infectious Disease Ontology / 冠状病毒感染性疾病本体 LOOM
http://purl.obolibrary.org/obo/HP_0004430 Human Phenotype Ontology / 人类表型本体 LOOM
http://purl.bioontology.org/ontology/LNC/LA12566-8 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.obolibrary.org/obo/MONDO_0015974 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0015974 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/LNC/LP111254-1 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/MESH/D016511 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/LNC/MTHU036640 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.obolibrary.org/obo/DOID_627 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_627 Human Disease Ontology / 人类疾病本体 LOOM
http://www.orpha.net/ORDO/Orphanet_183660 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU009056 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM