SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/1172605003
http://purl.bioontology.org/ontology/SNOMEDCT/1172605003
Preferred Name

Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome

Definitions
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears) and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination.
Synonyms
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome (disorder)
Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
Retinitis pigmentosa, deafness, premature ageing, short stature, facial dysmorphism syndrome
Retinitis pigmentosa, deafness, premature aging, short stature, facial dysmorphism 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