PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Anencephaly

Synonyms
Definitions

A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp.

ID

http://www.phoc.org.cn/pmo/class/PMO_00085546

Database_Cross_Reference

NDFRT:N0000000401

CST:ANOMALY CONGEN CNS

MTH:NOCODE

MDR:10002317

SNOMEDCT_US:203926007

DO:DOID:0060668

OMIM:206500

RCD:P00z.

LCH_NW:sh85004949

SNOMEDCT_US:268306009

SNMI:D4-F1134

AOD:0000006233

ICPC2P:N85001

SNOMEDCT_US:89369001

MDR:10002318

MSH:D000757

ICD10AM:Q00.0

NCI_CDISC:C84560

ICD9CM:740.0

NCI_NICHD:C84560

ICD10CM:Q00.0

CSP:0723-2890

CHV:0000001138

SNM:M-21510

ICD10:Q00.0

NCI:C84560

SNOMEDCT_VET:89369001

HPO:HP:0002323

MEDCIN:35749

LNC:LA20078-4

PSY:02460

SNOMEDCT_US:156885009

RCD:P00..

MDR:10002320

SNOMEDCT_US:156887001

LCH:U005154

MEDLINEPLUS:340

OMIM:MTHU011716

MEDCIN:34538

CCPSS:0003984

Definition

A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp.

label

Anencephaly

MCID

MC00000903

PMOID

PMO:00085546

prefixIRI

pmo:PMO_00085546

prefLabel

Anencephaly

Synonym

anencephalus

Anencephalus NOS

Anencephalic monster

Brain Congenital Absence

Absence of Brain, Congenital

Anencephaly [Disease/Finding]

CONGEN ABSENCE OF BRAIN

Congenital absence of brain

ANENCEPHALY

Anencephalia

agenesis of brain (diagnosis)

anencephaly (diagnosis)

anencephaly

brain aplasia

ABSENCE OF BRAIN CONGEN

Anencephalus

agenesis of brain

ANENCEPHALUS

anencephalia

Anencephalus et al NOS

Agenesis of brain

ANENCEPHALIA

Congenital Absence of Brain

Anencephalias

Anencephalus NOS (disorder)

Anencephalus (disorder)

Anencephaly (disorder)

Tree Number

T9.21.16.4.7

T9.8.3.20.4.7

T9.8.3.17.2

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00009934

http://www.phoc.org.cn/pmo/class/PMO_00036543

http://www.phoc.org.cn/pmo/class/PMO_00040101

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0000819 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0000819 EFO LOOM
http://purl.obolibrary.org/obo/MP_0001890 MP LOOM
http://purl.obolibrary.org/obo/DOID_0060668 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.500.680.196 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICPC2P/N85001 ICPC2P LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000757 RH-MESH LOOM
http://purl.bioontology.org/ontology/WHO/0673 WHO-ART LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.085.197 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/P00.. RCD LOOM
http://purl.obolibrary.org/obo/GSSO_006765 GSSO LOOM
http://purl.bioontology.org/ontology/MESH/D000757 MESH LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Anencephaly APANEUROCLUSTER LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Anencephaly APAEDUCLUSTER LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Anencephaly APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Anencephaly APAONTO LOOM
http://purl.obolibrary.org/obo/HP_0002323 HP LOOM
http://purl.obolibrary.org/obo/HP_0002323 UPHENO LOOM
http://purl.org/obo/owl/HP#HP_0002323 BDO LOOM
http://purl.obolibrary.org/obo/OMIT_0002165 OMIT LOOM
http://www.semanticweb.org/mypc/ontologies/2022/11/USBirthOnto-22#Anencephaly BIRTHONTO LOOM
http://purl.obolibrary.org/obo/MONDO_0000819 DOVES LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU011716 OMIM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#1138 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84560 NCIT LOOM
http://purl.obolibrary.org/obo/MP_0001890 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0001890 CHIRO LOOM
http://www.gamuts.net/entity#anencephaly GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0002902 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Anencephaly CSEO LOOM
http://purl.bioontology.org/ontology/LNC/LA20078-4 LOINC LOOM
http://purl.obolibrary.org/obo/DOID_0060668 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0060668 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0060668 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060668 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060668 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0060668 FNS-H LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q00.0 ICD10CM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.680.196 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C84560 BERO LOOM
http://www.co-ode.org/ontologies/galen#Anencephaly GALEN LOOM
http://purl.bioontology.org/ontology/ICD10/Q00.0 ICD10 LOOM
http://purl.bioontology.org/ontology/MEDDRA/10002320 MEDDRA LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002902 MEDLINEPLUS LOOM
http://purl.jp/bio/4/id/200906001627226821 IOBC LOOM