782878007: Autosomal recessive nail dysplasia (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756521013	Autosomal recessive nail dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756522018	Autosomal recessive nail dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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