Genetic and developmental disorders affecting the skin

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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.

code elsewhere

• Genetic hamartoneoplastic syndromes affecting the skin  (LD27.5)
• Variegate porphyria  (5C58.13)
• Mucopolysaccharidosis type 1  (5C56.30)
• Mucopolysaccharidosis type 2  (5C56.31)
• Mucopolysaccharidosis type 6  (5C56.33)
• Acrodermatitis enteropathica  (5C64.20)
• Monogenic autoinflammatory syndromes  (4A60)
• Chronic mucocutaneous candidosis  (1F23.14)
• Congenital anomalies of skin development  (LC60-LC60)
• Developmental hamartomata of the epidermis and epidermal appendages  (LC00-LC0Y)
• Developmental anomalies of skin pigmentation  (LC10-LC1Y)
• Hamartomata derived from dermal connective tissue  (LC20-LC2Y)
• Developmental defects of hair or nails  (LC30-LC31)
• Developmental anomalies of cutaneous vasculature  (LC50-LC5Z)

sections/codes in this section (EC10-EC7Y)

• Genetic syndromes affecting the skin  (EC10-EC1Y)
• Genetic disorders of keratinisation  (EC20)
• Genetic defects of hair or hair growth  (EC21)
• Genetic defects of nails or nail growth  (EC22)
• Genetic disorders of skin pigmentation  (EC23)
• Genetically-determined epidermolysis bullosa  (EC30-EC3Z)
• Genetic disorders affecting dermal collagen, elastin or other matrix proteins  (EC40-EC4Y)
• Specified developmental anomalies affecting the skin  (EC50-EC5Y)
• Other specified genetic and developmental disorders affecting the skin  (EC7Y)

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