Medical Subject Headings

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/MESH/D044903 http://purl.bioontology.org/ontology/MESH/D044903
Preferred Name	Congenital Hyperinsulinism
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).
Synonyms	Hyperinsulinisms, Familial Neonatal Hyperinsulinism Persistent Hyperinsulinemic Hypoglycemias PHHI Hypoglycemia Hyperinsulinisms, Congenital Familial Hyperinsulinism Neonatal Hyperinsulinisms PHHI Hypoglycemias Hyperinsulinism, Neonatal Hypoglycemia, Persistent Hyperinsulinemic Hypoglycemia, Hyperinsulinemic, of Infancy Infancy Hyperinsulinemia Hypoglycemias Hyperinsulinemic Hypoglycemia, Familial, 2 Hyperinsulinemic Hypoglycemias, Persistent Hypoglycemias, PHHI Hypoglycemias, Persistent Hyperinsulinemic Hyperinsulinism, Congenital Persistent Hyperinsulinemia Hypoglycemia of Infancy Familial Hyperinsulinemic Hypoglycemia 1 Hyperinsulinisms, Neonatal Hyperinsulinism, Familial Infancy Hyperinsulinemia Hypoglycemia Familial Hyperinsulinisms Hypoglycemia, PHHI Persistent Hyperinsulinemic Hypoglycemia Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia Hyperinsulinemia Hypoglycemia of Infancy Hyperinsulinemic Hypoglycemia, Persistent Congenital Hyperinsulinisms Hyperinsulinemic Hypoglycemia, Familial, 1 See more See less
Type	http://www.w3.org/2002/07/owl#Class

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).
altLabel	Hyperinsulinisms, Familial Neonatal Hyperinsulinism Persistent Hyperinsulinemic Hypoglycemias PHHI Hypoglycemia Hyperinsulinisms, Congenital Familial Hyperinsulinism Neonatal Hyperinsulinisms PHHI Hypoglycemias Hyperinsulinism, Neonatal Hypoglycemia, Persistent Hyperinsulinemic Hypoglycemia, Hyperinsulinemic, of Infancy Infancy Hyperinsulinemia Hypoglycemias Hyperinsulinemic Hypoglycemia, Familial, 2 Hyperinsulinemic Hypoglycemias, Persistent Hypoglycemias, PHHI Hypoglycemias, Persistent Hyperinsulinemic Hyperinsulinism, Congenital Persistent Hyperinsulinemia Hypoglycemia of Infancy Familial Hyperinsulinemic Hypoglycemia 1 Hyperinsulinisms, Neonatal Hyperinsulinism, Familial Infancy Hyperinsulinemia Hypoglycemia Familial Hyperinsulinisms Hypoglycemia, PHHI Persistent Hyperinsulinemic Hypoglycemia Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia Hyperinsulinemia Hypoglycemia of Infancy Hyperinsulinemic Hypoglycemia, Persistent Congenital Hyperinsulinisms Hyperinsulinemic Hypoglycemia, Familial, 1 See more See less
prefLabel	Congenital Hyperinsulinism
Machine permutation	2014; see PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY 2004-2013
HN	2014(2004)
type	http://www.w3.org/2002/07/owl#Class
tui	T047
TERMUI	T841396 T817729 T534661 T841395 T540441 T834022 T841397 T817726 T812533 T534660 T834018 T834017 T834019 T534618 T834020 T834021 T841398 See more See less
TH	OMIM (2013) NLM (2004) NLM (2013) GHR (2014) ORD (2010)
MMR	20130708
notation	D044903
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D024661 http://purl.bioontology.org/ontology/MESH/D018528
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401 See more See less
FX	D018528 D024661
DX	20040101
cui	C3888018 C2931832 C2931833
DC	1
MN	C18.452.394.984.200 C16.614.200 C06.689.150 C18.452.394.968.250
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
MDA	20030306
subClassOf	http://purl.bioontology.org/ontology/MESH/D007003 http://purl.bioontology.org/ontology/MESH/D006946 http://purl.bioontology.org/ontology/MESH/D010182 http://purl.bioontology.org/ontology/MESH/D007232

Add comment

Add proposal

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display