Preferred Label : 5q35.3 deletion;
ICD-11 definition : Distal monosomy 5q or deletion 5q35 is defined as a deletion of the terminal part
of the long arm of chromosome 5 (5q) including bands 5q35.1 5q35.2 5q35.3., associated
with a variable degree of facial dysmorphism, skull malformations, mild to severe
developmental delay and cardiac defects.;
ICD-11 synonym : Distal 5q deletion syndrome;
Origin ID : 1254440453;
UMLS CUI : C2931574;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Distal monosomy 5q or deletion 5q35 is defined as a deletion of the terminal part
of the long arm of chromosome 5 (5q) including bands 5q35.1 5q35.2 5q35.3., associated
with a variable degree of facial dysmorphism, skull malformations, mild to severe
developmental delay and cardiac defects.
