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

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

\Functional finding\Abnormal keratinization\...

\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Hereditary skin peeling syndrome (disorder)

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

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

\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 (disorder)\Hereditary skin peeling syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Hereditary skin peeling syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis (disorder)\Hereditary skin peeling syndrome (disorder)
\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 (disorder)\Hereditary skin peeling syndrome (disorder)
\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 (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Hereditary skin peeling syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Hereditary skin peeling syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Skin peeling disorder\Hereditary skin peeling syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Hereditary skin peeling syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Hereditary skin peeling syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Skin peeling disorder\Hereditary skin peeling syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Hereditary skin peeling syndrome (disorder)
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Hereditary skin peeling syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Hereditary skin peeling syndrome (disorder)
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Skin peeling disorder\Hereditary skin peeling syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Hereditary skin peeling syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Hereditary skin peeling syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Skin peeling disorder\Hereditary skin peeling syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Hereditary skin peeling syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Hereditary skin peeling syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3449167017 Hereditary skin peeling syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4594936015 Peeling skin syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4594937012 Familial continuous skin peeling syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

12695421000172114 syndrome héréditaire de desquamation cutanée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

12695431000172112 syndrome héréditaire de desquamation de la peau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4439351000172110 erfelijk 'skin peeling'-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4439361000172112 hereditair 'peeling-skin'-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Generalized peeling skin syndrome (disorder)	Is a	True	Hereditary skin peeling syndrome (disorder)	Inferred relationship	Some
Acral peeling skin syndrome	Is a	True	Hereditary skin peeling syndrome (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3449166014	Hereditary skin peeling syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3449167017	Hereditary skin peeling syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4594936015	Peeling skin syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4594937012	Familial continuous skin peeling syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
12695421000172114	syndrome héréditaire de desquamation cutanée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
12695431000172112	syndrome héréditaire de desquamation de la peau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4439351000172110	erfelijk 'skin peeling'-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4439361000172112	hereditair 'peeling-skin'-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)