Experimental Factor Ontology

Last uploaded: May 15, 2024
Preferred Name

iniencephaly

Synonyms
Definitions

Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.

ID

http://purl.obolibrary.org/obo/MONDO_0018968

closeMatch

http://identifiers.org/meddra/10022034

database_cross_reference

NCIT:C124549

ICD10CM:Q00.2

GARD:10506

ICD9:740.2

icd11.foundation:1558931335

SCTID:2438005

Orphanet:63259

MedDRA:10022034

UMLS:C0152234

definition

Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.

exactMatch

http://identifiers.org/snomedct/2438005

http://purl.obolibrary.org/obo/Orphanet_63259

http://linkedlifedata.com/resource/umls/id/C0152234

http://purl.bioontology.org/ontology/ICD10CM/Q00.2

http://purl.obolibrary.org/obo/NCIT_C124549

id

MONDO:0018968

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disease

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#ordo_morphological_anomaly

http://purl.obolibrary.org/obo/mondo#nord_rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#gard_rare

label

iniencephaly

notation

MONDO:0018968

prefLabel

iniencephaly

see also

https://rarediseases.info.nih.gov/diseases/10506/iniencephaly

subClassOf

http://purl.obolibrary.org/obo/MONDO_0018075

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