724838009: Hereditary skin peeling syndrome (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\Skin peeling disorder\Hereditary skin peeling syndrome
\Skin AND/OR mucosa finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Skin peeling disorder\Hereditary skin peeling syndrome

\General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Skin peeling disorder\Hereditary skin peeling syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Skin peeling disorder\Hereditary skin peeling syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Skin peeling disorder\Hereditary skin peeling syndrome

\Functional finding\Abnormal keratinisation\...

\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome

\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Disorder of keratinisation\Skin peeling disorder\Hereditary skin peeling syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Skin peeling disorder\Hereditary skin peeling syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Skin peeling disorder\Hereditary skin peeling syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Skin peeling disorder\Hereditary skin peeling syndrome
\Integumentary system finding\Abnormal keratinisation\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Skin peeling disorder\Hereditary skin peeling syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Skin peeling disorder\Hereditary skin peeling syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Skin peeling disorder\Hereditary skin peeling syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Skin peeling disorder\Hereditary skin peeling syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Skin peeling disorder\Hereditary skin peeling syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Skin peeling disorder\Hereditary skin peeling syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Hereditary skin peeling syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3449166014 Hereditary skin peeling syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3449167017 Hereditary skin peeling syndrome en Synonym Active Case insensitive SNOMED CT core

4594936015 Peeling skin syndrome en Synonym Active Case insensitive SNOMED CT core

4594937012 Familial continuous skin peeling syndrome en Synonym Active Case insensitive SNOMED CT core

4594934017 A group of rare autosomal recessive forms of ichthyosis with clinical characteristics of superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. Presents with either an acral or a generalised distribution. en Definition Active Case sensitive SNOMED CT core

4594935016 A group of rare autosomal recessive forms of ichthyosis with clinical characteristics of superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. Presents with either an acral or a generalized distribution. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary skin peeling syndrome	Is a	Developmental hereditary disorder	false	Inferred relationship	Some
Hereditary skin peeling syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	2
Hereditary skin peeling syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Hereditary skin peeling syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	2
Hereditary skin peeling syndrome	Is a	Autosomal recessive ichthyosis	true	Inferred relationship	Some
Hereditary skin peeling syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Hereditary skin peeling syndrome	Finding site	Entire skin	true	Inferred relationship	Some	1
Hereditary skin peeling syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Hereditary skin peeling syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Hereditary skin peeling syndrome	Is a	Skin peeling disorder	true	Inferred relationship	Some
Hereditary skin peeling syndrome	Is a	Inherited disorder of keratinisation	false	Inferred relationship	Some
Hereditary skin peeling syndrome	Has definitional manifestation	Abnormal keratinisation	false	Inferred relationship	Some
Hereditary skin peeling syndrome	Associated morphology	Exfoliative lesion	true	Inferred relationship	Some	4
Hereditary skin peeling syndrome	Finding site	Skin structure	true	Inferred relationship	Some	4
Hereditary skin peeling syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Hereditary skin peeling syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Hereditary skin peeling syndrome	Finding site	Skin structure	false	Inferred relationship	Some	5
Hereditary skin peeling syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1
Hereditary skin peeling syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Hereditary skin peeling syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	3
Hereditary skin peeling syndrome	Interprets	Keratinisation	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Generalised peeling skin syndrome	Is a	True	Hereditary skin peeling syndrome	Inferred relationship	Some
Acral peeling skin syndrome	Is a	True	Hereditary skin peeling syndrome	Inferred relationship	Some

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
3449166014	Hereditary skin peeling syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3449167017	Hereditary skin peeling syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4594936015	Peeling skin syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4594937012	Familial continuous skin peeling syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4594934017	A group of rare autosomal recessive forms of ichthyosis with clinical characteristics of superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. Presents with either an acral or a generalised distribution.	en	Definition	Active	Case sensitive	SNOMED CT core
4594935016	A group of rare autosomal recessive forms of ichthyosis with clinical characteristics of superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. Presents with either an acral or a generalized distribution.	en	Definition	Active	Case sensitive	SNOMED CT core