SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/1237342004
http://purl.bioontology.org/ontology/SNOMEDCT/1237342004
Preferred Name

Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

Definitions
A rare genetic developmental defect during embryogenesis malformation syndrome with characteristics of intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.
Synonyms
Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome (disorder)
Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome
Lethal foetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Type http://www.w3.org/2002/07/owl#Class
Delete Subject Author Type Created
No notes to display
  • Problem retrieving properties:

Notes

Filter:
Add NCBO Web Widgets to your site for SNOMEDCT
Widget type Widget demonstration
Jump To

Type a class name from SNOMEDCT and jump to it in BioPortal

Get code
Form Autocomplete

Fill your form fields with classes from SNOMEDCT

Get code
Example 1 (start typing the class name to get its full URI)

Example 2 (get the ID for a class)

Example 3 (get the preferred name for a class)
Visualization

Display a visualization for a given class in SNOMEDCT

Get code
Tree Widget

Display a class tree with a search field for SNOMEDCT

Get code