ICD-11 classes
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C54 — Inborn errors of glycosylation or other specified protein...

ICD-11 5C54 — Inborn errors of glycosylation or other specified protein modification

Congenital Disorders of Glycosylation (CDG) syndromes are a group of glycoprotein synthesis disorders characterised by neurological manifestations that can be associated with multivisceral involvement. The CDG syndromes are associated with different enzymatic deficits.

The diagnosis includes nothing.

The diagnosis excludes nothing.

Diagnosis with code 5C54 contains 5 clarifying diagnoses:

1. 5C54.0 — Disorders of protein N-glycosylation
2. 5C54.1 — Disorders of protein O-glycosylation
   It contains 1 clarifying diagnosis.
3. 5C54.2 — Disorders of multiple glycosylation or other pathways
4. 5C54.Y — Other specified congenital disorders of glycosylation and protein modification
5. 5C54.Z — Congenital disorders of glycosylation and protein modification, unspecified

The diagnosis is coded elsewhere:

• Syndromes with structural anomalies due to inborn errors of metabolism #23408
• Inborn errors of glycosylation or other specified protein modification #23411