782878007: Autosomal recessive nail dysplasia (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Autosomal recessive nail dysplasia
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\Autosomal recessive nail dysplasia
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Autosomal recessive nail dysplasia
• \constatation à propos de la structure d'un membre\constatation à propos d'un ongle\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Autosomal recessive nail dysplasia
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Autosomal recessive nail dysplasia
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\Autosomal recessive nail dysplasia
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Autosomal recessive nail dysplasia
• \constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Autosomal recessive nail dysplasia
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\Autosomal recessive nail dysplasia
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Autosomal recessive nail dysplasia
• \Integumentary system finding\constatation à propos d'un ongle\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Autosomal recessive nail dysplasia
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Autosomal recessive nail dysplasia
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\Autosomal recessive nail dysplasia
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Autosomal recessive nail dysplasia
• \Integumentary system finding\troubles tégumentaires\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Autosomal recessive nail dysplasia
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\Autosomal recessive nail dysplasia
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Autosomal recessive nail dysplasia
• \Disease\Genetic disease\Genetic disorder of nail (disorder)\Autosomal recessive nail dysplasia
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal recessive nail dysplasia
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive nail dysplasia
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal recessive nail dysplasia
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Autosomal recessive nail dysplasia
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\Autosomal recessive nail dysplasia
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Autosomal recessive nail dysplasia
• \Disease\affection d'un système corporel\troubles tégumentaires\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Autosomal recessive nail dysplasia
• \Disease\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Autosomal recessive nail dysplasia
• \Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Autosomal recessive nail dysplasia
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\Autosomal recessive nail dysplasia
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Autosomal recessive nail dysplasia

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
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
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

Expanded Value Set

This concept is not in any reference sets

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