Anencephaly

Go to external page http://purl.bioontology.org/ontology/MESH/D000757


A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247)

Instance info

Synonyms

Aprosencephaly, Incomplete Anencephaly, Anenzephalie (DE), Anencephalia, Hemicranial Anencephaly, Anencephaly, Incomplete, Anencephalus, Anencephalias, Aproenzephalie (DE), Anenzephalus (DE), Congenital Absence of Brain, Anencephaly, Hemicranial, Anencephalies, Partial, Brain Congenital Absence, Aprosencephalies, Anencephaly, Partial, Partial Anencephaly, Aprosenzephalie (DE), Partial Anencephalies, Absence of Brain, Congenital

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

DC

1

DX

19660101

FX

D000509

HN

79; was ANENCEPHALUS 1964-78 (Prov 1964-65)

MDA

19990101

MMR

20130708

MN

C16.131.085.197,C10.500.680.196,C16.131.666.680.196

OL

use ANENCEPHALY to search ANENCEPHALUS 1966-78

PM

79; was ANENCEPHALUS 1966-78

QB

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

RO

http://purl.bioontology.org/ontology/MESH/D000509

SIB

http://purl.bioontology.org/ontology/MESH/D008591,http://purl.bioontology.org/ontology/MESH/D004677,http://purl.bioontology.org/ontology/MESH/D058502,http://purl.bioontology.org/ontology/MESH/D016135,http://purl.bioontology.org/ontology/MESH/D008588,http://purl.bioontology.org/ontology/MESH/D001139,http://purl.bioontology.org/ontology/MESH/D014428

TERMUI

T371999,T002260,T372001,T372000,T002259,T372003,T372002,T372004,T371998

TH

GHR (2014),ORD (2010),OMIM (2013),NLM (2000),UNK (19XX),BIOETHICS (1988)

cui

C0302356,C0002902,C0431349

hasSTY

http://purl.bioontology.org/ontology/STY/T019

mapped from

http://purl.bioontology.org/ontology/MESH/C536409,http://purl.bioontology.org/ontology/MESH/C536359,http://purl.bioontology.org/ontology/MESH/C536767,http://purl.bioontology.org/ontology/MESH/C563331

tui

T019

Instance relations

Types