722436002: Dystrophic epidermolysis bullosa nails only (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\...

\Nail finding\Disorder of nail\...

\Genetic disorder of nail\Dystrophic epidermolysis bullosa nails only

\Developmental abnormality of nail\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only

\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Dystrophic epidermolysis bullosa nails only
\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only

\Finding of limb structure\Nail finding\Disorder of nail\Genetic disorder of nail\Dystrophic epidermolysis bullosa nails only
\Finding of limb structure\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of nail\Genetic disorder of nail\Dystrophic epidermolysis bullosa nails only
\Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only

\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail\Genetic disorder of nail\Dystrophic epidermolysis bullosa nails only
\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Dystrophic epidermolysis bullosa nails only
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\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\Dystrophic epidermolysis bullosa nails only
\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\Developmental abnormality of nail\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\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\Dystrophic epidermolysis bullosa nails only
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail\Genetic disorder of nail\Dystrophic epidermolysis bullosa nails only
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Dystrophic epidermolysis bullosa nails only
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only

\Disease\Genetic disease\Genetic disorder of nail\Dystrophic epidermolysis bullosa nails only
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Dystrophic epidermolysis bullosa nails only
\Disease\Degenerative disorder\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\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\Dystrophic epidermolysis bullosa nails only
\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\Developmental abnormality of nail\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\Disease\Disorder of extremity\Disorder of digit\Disorder of nail\Genetic disorder of nail\Dystrophic epidermolysis bullosa nails only
\Disease\Disorder of extremity\Disorder of digit\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\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\Dystrophic epidermolysis bullosa nails only
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dystrophic epidermolysis bullosa nails only
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only
\Disease\Developmental disorder\Developmental abnormality of nail\Congenital anomaly of nail\Dystrophic epidermolysis bullosa nails only

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3332060018 Dystrophic epidermolysis bullosa nails only (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3332061019 Dystrophic epidermolysis bullosa nails only en Synonym Active Case insensitive SNOMED CT core

3332062014 Nails only DEB (dystrophic epidermolysis bullosa) en Synonym Active Initial character case insensitive SNOMED CT core

3332063016 A rare subtype of dystrophic epidermolysis bullosa that shows no blistering and that has characteristics of dystrophic or absent nails. Prevalence is unknown. Approximately ten families have been reported to date. However, this variant may be overlooked because of negligible clinical implications. Onset is usually at birth or during infancy. Except from nail involvement, no other cutaneous or extracutaneous symptoms are observed. Nail deformity is often limited to toenails that can appear thickened and shortened. Caused by mutations within the type VII collagen gene (COL7A1). It usually follows an autosomal dominant pattern of inheritance. One family with an autosomal recessive inheritance has also been reported. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dystrophic epidermolysis bullosa nails only	Finding site	Skin structure	true	Inferred relationship	Some	2
Dystrophic epidermolysis bullosa nails only	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Dystrophic epidermolysis bullosa nails only	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Dystrophic epidermolysis bullosa nails only	Occurrence	Congenital	true	Inferred relationship	Some	1
Dystrophic epidermolysis bullosa nails only	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Dystrophic epidermolysis bullosa nails only	Occurrence	Congenital	true	Inferred relationship	Some	2
Dystrophic epidermolysis bullosa nails only	Associated morphology	Epidermolysis	true	Inferred relationship	Some	2
Dystrophic epidermolysis bullosa nails only	Finding site	Nail unit structure	true	Inferred relationship	Some	1
Dystrophic epidermolysis bullosa nails only	Is a	Genetic disorder of nail	true	Inferred relationship	Some
Dystrophic epidermolysis bullosa nails only	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Dystrophic epidermolysis bullosa nails only	Is a	Congenital anomaly of nail	true	Inferred relationship	Some
Dystrophic epidermolysis bullosa nails only	Is a	Localised dystrophic epidermolysis bullosa	true	Inferred relationship	Some
Dystrophic epidermolysis bullosa nails only	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Dystrophic epidermolysis bullosa nails only	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Dystrophic epidermolysis bullosa nails only	Finding site	Connective tissue structure	false	Inferred relationship	Some
Dystrophic epidermolysis bullosa nails only	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Dystrophic epidermolysis bullosa nails only	Occurrence	Congenital	false	Inferred relationship	Some	4
Dystrophic epidermolysis bullosa nails only	Finding site	Nail structure	false	Inferred relationship	Some	4
Dystrophic epidermolysis bullosa nails only	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Dystrophic epidermolysis bullosa nails only	Occurrence	Congenital	false	Inferred relationship	Some	5
Dystrophic epidermolysis bullosa nails only	Finding site	Skin structure	false	Inferred relationship	Some	5
Dystrophic epidermolysis bullosa nails only	Associated morphology	Epidermolysis	false	Inferred relationship	Some	6
Dystrophic epidermolysis bullosa nails only	Finding site	Skin structure	false	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3332060018	Dystrophic epidermolysis bullosa nails only (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3332061019	Dystrophic epidermolysis bullosa nails only	en	Synonym	Active	Case insensitive	SNOMED CT core
3332062014	Nails only DEB (dystrophic epidermolysis bullosa)	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3332063016	A rare subtype of dystrophic epidermolysis bullosa that shows no blistering and that has characteristics of dystrophic or absent nails. Prevalence is unknown. Approximately ten families have been reported to date. However, this variant may be overlooked because of negligible clinical implications. Onset is usually at birth or during infancy. Except from nail involvement, no other cutaneous or extracutaneous symptoms are observed. Nail deformity is often limited to toenails that can appear thickened and shortened. Caused by mutations within the type VII collagen gene (COL7A1). It usually follows an autosomal dominant pattern of inheritance. One family with an autosomal recessive inheritance has also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core