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anencephaly 1

^ http://purl.obolibrary.org/obo/MONDO_0008791

Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days. [ Orphanet:1048 ]

Term info

database cross reference
  • GARD:0005808 (MONDO:equivalentTo)
  • OMIM:206500 (Orphanet:1048/e)
  • ICD9:740.0 (MONDO:i2s)
  • SCTID:89369001 (MONDO:equivalentTo)
  • Orphanet:1048 (OMIM:206500)
Subsets

ordo_morphological_anomaly

abbreviation
ANPH [ OMIM:206500 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4616, https://github.com/monarch-initiative/mondo/issues/5588, https://github.com/monarch-initiative/mondo/issues/3684, https://github.com/monarch-initiative/mondo/issues/4521

definition

Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_1048, http://identifiers.org/snomedct/89369001, https://omim.org/entry/206500

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has broad synonym

anencephaly, ANPH

has exact synonym

anencephaly 1, isolated anencephaly/exencephaly

has related synonym

absence of a large part of the brain and the skull

id

MONDO:0008791