ICD-11 classes
14 Diseases of the skin
Genetic and developmental disorders affecting the skin

ICD-11 Genetic and developmental disorders affecting the skin

A large group of disorders, some limited to the skin but many involving other organ systems, due to heritable genetic defects, chromosomal abnormalities or embryofetal developmental anomalies.

The diagnosis includes nothing.

The diagnosis excludes nothing.

Diagnosis contains 28 clarifying diagnoses:

1. Genetic syndromes affecting the skin
   It contains 5 clarifying diagnoses.
2. EC20 — Genetic disorders of keratinisation
   It contains 7 clarifying diagnoses.
3. EC21 — Genetic defects of hair or hair growth
   It contains 7 clarifying diagnoses.
4. EC22 — Genetic defects of nails or nail growth
   It contains 2 clarifying diagnoses.
5. EC23 — Genetic disorders of skin pigmentation
   It contains 4 clarifying diagnoses.
6. Genetically-determined epidermolysis bullosa
   It contains 5 clarifying diagnoses.
7. Genetic disorders affecting dermal collagen, elastin or other matrix proteins
   It contains 5 clarifying diagnoses.
8. Specified developmental anomalies affecting the skin
   It contains 6 clarifying diagnoses.
9. Chromosomal disorders affecting the skin
   It contains 8 clarifying diagnoses.
10. DNA instability syndromes affecting the skin
    It contains 1 clarifying diagnosis.
11. Genetic disorders of adipose tissue or lipid metabolism affecting the skin
    It contains 4 clarifying diagnoses.
12. Genetic disorders of amino acid metabolism or transport affecting the skin
    It contains 8 clarifying diagnoses.
13. Sphingolipidoses with skin manifestations
    It contains 1 clarifying diagnosis.
14. LD27.5 — Genetic hamartoneoplastic syndromes affecting the skin
    It contains 4 clarifying diagnoses.
15. 5C58.13 — Variegate porphyria
16. 5C56.30 — Mucopolysaccharidosis type 1
17. 5C56.31 — Mucopolysaccharidosis type 2
18. 5C56.33 — Mucopolysaccharidosis type 6
19. 5C64.20 — Acrodermatitis enteropathica
20. 4A60 — Monogenic autoinflammatory syndromes
    It contains 5 clarifying diagnoses.
21. 1F23.14 — Chronic mucocutaneous candidosis
22. Congenital anomalies of skin development
    It contains 1 clarifying diagnosis.
23. Developmental hamartomata of the epidermis and epidermal appendages
    It contains 4 clarifying diagnoses.
24. Developmental anomalies of skin pigmentation
    It contains 3 clarifying diagnoses.
25. Hamartomata derived from dermal connective tissue
    It contains 2 clarifying diagnoses.
26. Developmental defects of hair or nails
    It contains 2 clarifying diagnoses.
27. Developmental anomalies of cutaneous vasculature
    It contains 5 clarifying diagnoses.
28. EC7Y — Other specified genetic and developmental disorders affecting the skin