Medical Subject Headings

Last uploaded: November 5, 2019
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Preferred Name

Congenital Hyperinsulinism
Synonyms

Hyperinsulinisms, Familial
Definitions

A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8).
ID

http://purl.bioontology.org/ontology/MESH/D044903
altLabel

Hyperinsulinisms, Familial

PHHI Hypoglycemia

Persistent Hyperinsulinemic Hypoglycemias

Congenital Hyperinsulinisms

Hyperinsulinism, Congenital

Infancy Hyperinsulinemia Hypoglycemia

Persistent Hyperinsulinemic Hypoglycemia

Hypoglycemia, Persistent Hyperinsulinemic

Familial Hyperinsulinemic Hypoglycemia 1

Persistent Hyperinsulinemia Hypoglycemia of Infancy

Hyperinsulinisms, Congenital

Hypoglycemia, PHHI

Hypoglycemia, Hyperinsulinemic, of Infancy

Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia

Familial Hyperinsulinism

Neonatal Hyperinsulinism

Hyperinsulinism, Neonatal

PHHI Hypoglycemias

Hyperinsulinemic Hypoglycemia, Persistent

Hypoglycemias, Persistent Hyperinsulinemic

Familial Hyperinsulinisms

Hyperinsulinemia Hypoglycemia of Infancy

Hyperinsulinisms, Neonatal

Infancy Hyperinsulinemia Hypoglycemias

Neonatal Hyperinsulinisms

Hyperinsulinism, Familial

Hypoglycemias, PHHI

Hyperinsulinemic Hypoglycemia, Familial, 1

Hyperinsulinemic Hypoglycemia, Familial, 2

Hyperinsulinemic Hypoglycemias, Persistent
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

C2931832

C3888018

C2931833
DC

1
definition

A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8).
DX

20040101
FX

D024661

D018528
HN

2014(2004)
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/D024661

http://purl.bioontology.org/ontology/MESH/D018528
Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D020936

http://purl.bioontology.org/ontology/MESH/D003085

http://purl.bioontology.org/ontology/MESH/D020417

http://purl.bioontology.org/ontology/MESH/D009357

http://purl.bioontology.org/ontology/MESH/D008471

http://purl.bioontology.org/ontology/MESH/D010547

http://purl.bioontology.org/ontology/MESH/D001720

http://purl.bioontology.org/ontology/MESH/D000652

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

http://purl.bioontology.org/ontology/MESH/D010188

http://purl.bioontology.org/ontology/MESH/D007331

http://purl.bioontology.org/ontology/MESH/D010190

http://purl.bioontology.org/ontology/MESH/D006958

http://purl.bioontology.org/ontology/MESH/D000071074

http://purl.bioontology.org/ontology/MESH/D001238

http://purl.bioontology.org/ontology/MESH/D010185

http://purl.bioontology.org/ontology/MESH/D015223

http://purl.bioontology.org/ontology/MESH/D007057

http://purl.bioontology.org/ontology/MESH/D020331

http://purl.bioontology.org/ontology/MESH/D010195

http://purl.bioontology.org/ontology/MESH/D000751

http://purl.bioontology.org/ontology/MESH/D054098

http://purl.bioontology.org/ontology/MESH/D004899

http://purl.bioontology.org/ontology/MESH/D007333

http://purl.bioontology.org/ontology/MESH/D011038

http://purl.bioontology.org/ontology/MESH/D013796

http://purl.bioontology.org/ontology/MESH/D014125

http://purl.bioontology.org/ontology/MESH/D006475

http://purl.bioontology.org/ontology/MESH/D016511

http://purl.bioontology.org/ontology/MESH/D010181

http://purl.bioontology.org/ontology/MESH/D009878

http://purl.bioontology.org/ontology/MESH/D012593

http://purl.bioontology.org/ontology/MESH/D051556

http://purl.bioontology.org/ontology/MESH/D006871

http://purl.bioontology.org/ontology/MESH/D003550

http://purl.bioontology.org/ontology/MESH/D007235

http://purl.bioontology.org/ontology/MESH/D013590
Machine permutation

2014; see PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY 2004-2013
MDA

20030709
MMR

20130708
MN

C18.452.394.968.250

C18.452.394.984.200

C16.614.200

C06.689.150
notation

D044903
prefLabel

Congenital Hyperinsulinism
TERMUI

T841397

T534660

T534618

T841395

T540441

T834018

T834021

T817726

T834020

T534661

T812533

T834017

T841396

T834019

T841398

T817729

T834022
TH

NLM (2013)

NLM (2004)

ORD (2010)

OMIM (2013)

GHR (2014)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D007003

http://purl.bioontology.org/ontology/MESH/D010182

http://purl.bioontology.org/ontology/MESH/D006946

http://purl.bioontology.org/ontology/MESH/D007232
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/601820 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/601820 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/600509 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/600937 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/256450 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/256450 Online Mendelian Inheritance in Man CUI