2p21 microdeletion syndrome without cystinuria

disorder

SNOMED 770754006CUI C4749458

Overview

2p21 microdeletion syndrome without cystinuria is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Deletion of part of short arm of chromosome 2(parent)

Developmental hereditary disorder(parent)

Global developmental delay(parent)

Genitourinary congenital anomalies(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Mild mental retardation (I.Q. 50-70)(parent)

Hereditary disorder of musculoskeletal system(parent)

Disease of skeletal muscle(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 770754006
UMLS CUI: C4749458
Fully Specified Name: 2p21 microdeletion syndrome without cystinuria (disorder)
Specialists: 0
Diagnostic Biomarkers: 0

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.