search

obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
Other
286 stars 51 forks source link

Abnormality of fetal nasal bone #6989

Closed BimalChaudhari closed 2 years ago

BimalChaudhari commented 3 years ago

Preferred term label: Abnormality of fetal nasal bone

Synonyms

Definition (free text, please give PubMed ID) Fetal nasal bone length < 2.5 percentile or absent (PMID:16100637).

Parent term (use hpo.jax.org/app) HP:0011425

Diseases characterized by this term ? (e.g. Orphanet or OMIM number)

Your nano-attribution (ORCID) 0000-0002-0115-949X

pnrobinson commented 3 years ago

@pnrobinson test

patt1morgan commented 3 years ago

@Shagun1976, @fcradio, @Green-eve. This is the last of the new term requests for 'nasal bone'. Once again, we ask your help in reviewing. Your help is truly appreciated...

Shagun1976 commented 3 years ago

Agree with the parent term: Abnormality of fetal nasal bone Two child terms can be included: Absent nasal bone and hypoplastic nasal bone Both terms need to be qualified further by 1. Definition 2. Synonyms
Absent nasal bone Definition: Non visualization of nasal bone on antenatal ultrasound using standard imaging techniques Synonyms: Unossified nasal bone Disease association: Down syndrome (# 190685) Comment: Absent nasal bone on antenatal ultrasound is one of the soft markers for Down syndrome. This marker can be used to adjust a-priori risk for Down syndrome and offer options for further diagnostic testing to the pregnant woman. Absent nasal bone can also rarely be a marker for submicroscopic copy number abnormalities and single gene disorders in the fetus.

Hypoplastic nasal bone Definition: Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques Synonyms: Nasal bone length <5th centile, Nasal bone length <2.5th centile, Nasal bone length <2.5mm, Nasal bone MoM<0.75 Comment: Different studies have used different cut-offs to assess the length of nasal bone. Most data supports use of gestation and ethnicity specific centiles or MoMs. Hypoplastic nasal bone on antenatal ultrasound is one of the soft markers for Down syndrome. This marker can be used to adjust a-priori risk for Down syndrome and offer options for further diagnostic testing to the pregnant woman. Hypoplastic nasal bone can also rarely be a marker for submicroscopic copy number abnormalities and single gene disorders in the fetus.

pnrobinson commented 2 years ago

Aplasia/hypoplasia of fetal nasal bone -parent https://hpo.jax.org/app/browse/term/HP:0010939 and fetal soft marker

pnrobinson commented 2 years ago

@BimalChaudhari @Shagun1976

What about this (instead of Aplasia/hypoplasia of fetal nasal bone) Abnormal fetal nasal bone visualization Def: Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age. PMID:16813740

In addition, I would add the synonym "Nonvisualization of fetal nasal bone" as a synonym to the "Absent" term, and would add "See Figure 1 of PMID:23324624" to the comment

pnrobinson commented 2 years ago

see also https://github.com/obophenotype/human-phenotype-ontology/issues/6988 for additional comments https://github.com/obophenotype/human-phenotype-ontology/issues/6988

pnrobinson commented 2 years ago

adding terms