Congenital onset

Basic details

Preferred term: Congenital onset
Alt. terms: Intrauterine onset | Onset at birth | Onset in utero | Prenatal onset | Symptoms present at birth

HPO term: Congenital onset
HPO code: HP:0003577

GenIA ID: 3196
Last updated on: 2024-02-22 18:03:19

Cross ref. with other ontologies

NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -

Description

A phenotypic abnormality that is present at birth. Note: Congenital onset literally means present at birth. Congenital abnormalities are thus generally acquired during fetal development. Congenital abnormalities are often but not always hereditary in nature. Whether a disease manifestation is diagnosed to be intrauterine or congenital may depend on the time at which diagnostic procedures are performed. Thus, most congenital abnormalities are also intrauterine. This term should be used for phenotypic abnormalities or diseases initially observed at the time of birth. For abnormalities observed prior to (e.g., by fetal ultrasound), use the term Antenatal onset (HP:0030674).

Hierarchical classification

PARENT terms
TERM

Congenital onset

CHILD terms

Reported patients added to GenIA DB

SubjectID Sex Fam.ID Age* Population MatchedTerm Diagnosis Reference & Pub.codes

*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).