遗传和发育性疾病累及皮肤 / 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.

http://purl.bmicc.cn/ontology/ICD11CN/L1-EC1

Mucopolysaccharidosis type 2 (5C56.31)

Mucopolysaccharidosis type 6 (5C56.33)

Mucopolysaccharidosis type 1 (5C56.30)

Genetic disorders of amino acid metabolism or transport affecting the skin

Developmental hamartomata of the epidermis and epidermal appendages (LC00-LC0Y)

DNA instability syndromes affecting the skin

Developmental anomalies of skin pigmentation (LC10-LC1Y)

Monogenic autoinflammatory syndromes (4A60)

Acrodermatitis enteropathica (5C64.20)

Developmental defects of hair or nails (LC30-LC31)

Chromosomal disorders affecting the skin

Sphingolipidoses with skin manifestations

Chronic mucocutaneous candidosis (1F23.14)

Genetic hamartoneoplastic syndromes affecting the skin (LD27.5)

Hamartomata derived from dermal connective tissue (LC20-LC2Y)

Genetic disorders of adipose tissue or lipid metabolism affecting the skin

Developmental anomalies of cutaneous vasculature (LC50-LC5Z)

Congenital anomalies of skin development (LC60-LC60)

Variegate porphyria (5C58.13)

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.

http://id.who.int/icd/release/11/2019-04/mms/106304476

遗传和发育性疾病累及皮肤 / Genetic and developmental disorders affecting the skin

http://purl.bmicc.cn/ontology/ICD10CN/L00-L99.9

L1-EC1

ICD11CN:L1-EC1

遗传和发育性疾病累及皮肤 / Genetic and developmental disorders affecting the skin

http://purl.bmicc.cn/ontology/ICD11CN/14