SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/1187304005
http://purl.bioontology.org/ontology/SNOMEDCT/1187304005
Preferred Name

Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome

Definitions
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, with characteristics of macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge and macrostomia), megalencephaly and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior and cafe-au-lait spots among others. A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, with characteristics of macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge and macrostomia), megalencephaly and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behaviour and cafe-au-lait spots among others.
Synonyms
Smith Kingsmore syndrome
MINDS (macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax) syndrome
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder)
MINDS 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