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\Autosomal recessive nail dysplasia
\Skin AND/OR mucosa finding (finding)\Skin finding\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Autosomal recessive nail dysplasia
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Autosomal recessive nail dysplasia
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Autosomal recessive nail dysplasia
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Autosomal recessive nail dysplasia

\Finding of limb structure\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Autosomal recessive nail dysplasia
\Finding of limb structure\Disorder of limb (disorder)\Disorder of soft tissue of limb\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Autosomal recessive nail dysplasia
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Autosomal recessive nail dysplasia

\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Autosomal recessive nail dysplasia
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Autosomal recessive nail dysplasia
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Autosomal recessive nail dysplasia
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Autosomal recessive nail dysplasia
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Autosomal recessive nail dysplasia
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Autosomal recessive nail dysplasia
\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\Structural abnormality of skin appendage (disorder)\Autosomal recessive nail dysplasia
\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)\Autosomal recessive nail dysplasia
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Autosomal recessive nail dysplasia
\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)\Autosomal recessive nail dysplasia
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Autosomal recessive nail dysplasia
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Autosomal recessive nail dysplasia
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Autosomal recessive nail dysplasia
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Autosomal recessive nail dysplasia
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Autosomal recessive nail dysplasia

\Disease\Genetic disease\Genetic disorder of nail (disorder)\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)\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Autosomal recessive nail dysplasia
\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)\Autosomal recessive nail dysplasia
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Autosomal recessive nail dysplasia
\Disease\Disorder of limb (disorder)\Disorder of soft tissue of limb\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Autosomal recessive nail dysplasia
\Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Autosomal recessive nail dysplasia
\Disease\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Autosomal recessive nail dysplasia
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Autosomal recessive nail dysplasia
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Structural abnormality of skin appendage (disorder)\Autosomal recessive nail dysplasia
\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)\Autosomal recessive nail dysplasia
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\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 Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5408347011 A rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5408348018 A rare, isolated nail anomaly characterised by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive nail dysplasia	Finding site	Nail plate structure (body structure)	true	Inferred relationship	Some	1
Autosomal recessive nail dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Autosomal recessive nail dysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive nail dysplasia	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Autosomal recessive nail dysplasia	Is a	Skin lesion	true	Inferred relationship	Some
Autosomal recessive nail dysplasia	Is a	Genetic disorder of nail (disorder)	true	Inferred relationship	Some
Autosomal recessive nail dysplasia	Is a	Disorder of skin appendage	false	Inferred relationship	Some
Autosomal recessive nail dysplasia	Is a	Structural abnormality of skin appendage (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408347011	A rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408348018	A rare, isolated nail anomaly characterised by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core