782878007: Autosomal recessive nail dysplasia (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Autosomal recessive nail dysplasia
• \Skin AND/OR mucosa finding\Skin finding\Nail finding\Disorder of nail\Genetic disorder of nail\Autosomal recessive nail dysplasia
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Autosomal recessive nail dysplasia
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Autosomal recessive nail dysplasia
• \Finding of limb structure\Nail finding\Disorder of nail\Genetic disorder of nail\Autosomal recessive nail dysplasia
• \Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of nail\Genetic disorder of nail\Autosomal recessive nail dysplasia
• \General finding of soft tissue\Skin finding\Nail finding\Disorder of nail\Genetic disorder of nail\Autosomal recessive nail dysplasia
• \General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Autosomal recessive nail dysplasia
• \General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Autosomal recessive nail dysplasia
• \General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Autosomal recessive nail dysplasia
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Autosomal recessive nail dysplasia
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Autosomal recessive nail dysplasia
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Autosomal recessive nail dysplasia
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Autosomal recessive nail dysplasia
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Autosomal recessive nail dysplasia
• \Integumentary system finding\Skin finding\Nail finding\Disorder of nail\Genetic disorder of nail\Autosomal recessive nail dysplasia
• \Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Autosomal recessive nail dysplasia
• \Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Autosomal recessive nail dysplasia
• \Disease\Genetic disease\Genetic disorder of nail\Autosomal recessive nail dysplasia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal recessive nail dysplasia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive nail dysplasia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal recessive nail dysplasia
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Autosomal recessive nail dysplasia
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Autosomal recessive nail dysplasia
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Autosomal recessive nail dysplasia
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Autosomal recessive nail dysplasia
• \Disease\Disorder of extremity\Disorder of digit\Disorder of nail\Genetic disorder of nail\Autosomal recessive nail dysplasia
• \Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Autosomal recessive nail dysplasia
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Autosomal recessive nail dysplasia
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Autosomal recessive nail dysplasia

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3756521013	Autosomal recessive nail dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3756522018	Autosomal recessive nail dysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3756523011	A rare isolated nail anomaly with characteristics of claw-shaped thick hyperplastic hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. There is evidence the disease can be caused by homozygous mutation in the FZD6 gene on chromosome 8q22.3-q23.1.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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