Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Fetal alcohol syndrome

Synonyms

Fetal alcohol spectrum disorders

Definitions

Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).

ID

http://www.orpha.net/ORDO/Orphanet_1915

alternative_term

Fetal alcohol spectrum disorders

Alcohol-related birth defects

ARBD

Alcohol-related neurodevelopmental disorder

FAS

FASD

ARND

definition

Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1915

has_age_of_onset

Antenatal

Neonatal

has_inheritance

Not applicable

hasDbXref

ICD-11:LD2F.00

MeSH:D063647

MedDRA:10016845

ICD-10:Q86.0

UMLS:C0015923

label

Fetal alcohol syndrome

notation

ORPHA:1915

part_of

http://www.orpha.net/ORDO/Orphanet_251529

http://www.orpha.net/ORDO/Orphanet_138059

prefixIRI

ORDO:Orphanet_1915

prefLabel

Fetal alcohol syndrome

present_in

Ireland AND has_birth_prevalence_average_value : 8.1 AND has_birth_prevalence_range : 1-9 / 100 000

Ukraine AND has_birth_prevalence_average_value : 80.8 AND has_birth_prevalence_range : 6-9 / 10 000

Spain AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000

Austria AND has_birth_prevalence_average_value : 9.8 AND has_birth_prevalence_range : 1-9 / 100 000

Norway AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000

Belgium AND has_birth_prevalence_average_value : 5.8 AND has_birth_prevalence_range : 1-9 / 100 000

Switzerland AND has_birth_prevalence_average_value : 13.2 AND has_birth_prevalence_range : 1-5 / 10 000

Europe AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000

United Kingdom AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000

Poland AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000

Germany AND has_birth_prevalence_average_value : 14.8 AND has_birth_prevalence_range : 1-5 / 10 000

France AND has_birth_prevalence_average_value : 13.6 AND has_birth_prevalence_range : 1-5 / 10 000

Worldwide AND has_point_prevalence_range : Unknown

South Africa AND has_point_prevalence_average_value : 6800.0 AND has_point_prevalence_range : >1 / 1000

Italy AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : 1-9 / 100 000

Hungary AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000

treeView

http://www.orpha.net/ORDO/Orphanet_251529

http://www.orpha.net/ORDO/Orphanet_138059

subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0016011 MONDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10016475 MEDDRA LOOM
http://purl.obolibrary.org/obo/NCIT_C84713 BERO LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Fetal_Alcohol_Syndrome PEDTERM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Fetal_Alcohol_Syndrome CSEO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#4985 OCHV LOOM
http://uri.neuinfo.org/nif/nifstd/nlx_dys_20090602 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/nlx_dys_20090602 NIFSTD LOOM
http://purl.bioontology.org/ontology/CSP/2403-8891 CRISP LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84713 NCIT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_487 HRDO LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Fetal_Alcohol_Syndrome APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Fetal_Alcohol_Syndrome APAONTO LOOM
http://www.gamuts.net/entity#fetal_alcohol_syndrome GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_0050665 MFOMD LOOM
http://purl.obolibrary.org/obo/DOID_0050665 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050665 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050665 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050665 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050665 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050665 FNS-H LOOM
http://id.nlm.nih.gov/mesh/D063647 MDM LOOM
http://purl.jp/bio/4/id/200906065342973591 IOBC LOOM
http://purl.bioontology.org/ontology/RCTV2/PK80.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/205788004 SNOMEDCT LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14870 DERMLEX LOOM
http://purl.obolibrary.org/obo/MONDO_0016011 DOVES LOOM
http://www.gamuts.net/entity#fetal_alcohol_syndrome GAMUTS REST