Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023
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Preferred Name

Beckwith-Wiedemann Syndrome
Synonyms

Syndrome, EMG
Definitions

A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
ID

http://purl.bioontology.org/ontology/MESH/D001506
altLabel

Syndrome, EMG

Exomphalos-Macroglossia-Gigantism Syndromes

EMG Syndrome

Beckwith Wiedemann Syndrome

Syndrome, Wiedemann

Exomphalos-Macroglossia-Gigantism Syndrome

Syndrome, Exomphalos-Macroglossia-Gigantism

Wiedemann Syndromes

Wiedemann Beckwith Syndrome

Syndrome, Wiedemann-Beckwith (WBS)

Wiedemann-Beckwith Syndrome (WBS)

Syndrome, Beckwith-Wiedemann

Exomphalos Macroglossia Gigantism Syndrome

Syndrome, Wiedemann-Beckwith

Wiedemann Beckwith Syndrome (WBS)

Wiedemann-Beckwith Syndromes (WBS)

Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

EMG Syndromes
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui

C0004903
DC

1
definition

A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
DX

19830101
FX

D056730

D005877
HN

1983
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469
Inverse of RO

http://purl.bioontology.org/ontology/MESH/D005877

http://purl.bioontology.org/ontology/MESH/D006554

http://purl.bioontology.org/ontology/MESH/D008260

http://purl.bioontology.org/ontology/MESH/D056730

http://purl.bioontology.org/ontology/MESH/D016162
Machine permutation

1983
Mapped from

http://purl.bioontology.org/ontology/MESH/C537272
MDA

19820426
MMR

20210512
MN

C16.131.077.133

C16.320.180.080

C16.131.260.080
notation

D001506
prefLabel

Beckwith-Wiedemann Syndrome
TERMUI

T004381

T746556

T840989

T001080753

T817118

T004382
TH

NLM (2021)

NLM (1991)

NLM (2010)

NLM (2014)

NLM (1983)

ORD (2010)

OBSSR (2021)

OMIM (2013)

GHR (2014)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D025063

http://purl.bioontology.org/ontology/MESH/D000015
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http://purl.obolibrary.org/obo/DOID_5572 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_5572 Human Disease Ontology / 人类疾病本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34415 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://www.orpha.net/ORDO/Orphanet_116 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007534 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007534 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/OMIM/616186 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.3 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bioontology.org/ontology/OMIM/600856 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/130650 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/130650 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/OMIM/604115 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI