312514006: Netherton's syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Rough skin (finding)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome

\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disorder of skin (disorder)\Disorder of skin appendage\Netherton's syndrome
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome

\General finding of soft tissue\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Netherton's syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\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\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\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\Netherton's syndrome
\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\Cutaneous syndrome with ichthyosis\Netherton's syndrome

\Functional finding\Abnormal keratinization\...

\Rough skin (finding)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome

\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Netherton's syndrome
\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\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Netherton's syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\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\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Netherton's syndrome
\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\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Netherton's syndrome
\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\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Netherton's syndrome	Is a	Cutaneous syndrome with ichthyosis	true	Inferred relationship	Some
Netherton's syndrome	Finding site	Hair appendage structure	true	Inferred relationship	Some	2
Netherton's syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Netherton's syndrome	Finding site	Structure of skin region	false	Inferred relationship	Some
Netherton's syndrome	Is a	Disorder of skin appendage	true	Inferred relationship	Some
Netherton's syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Netherton's syndrome	Is a	Site-specific disorder of skin	false	Inferred relationship	Some
Netherton's syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Netherton's syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Netherton's syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Netherton's syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Netherton's syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Netherton's syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Netherton's syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Netherton's syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Netherton's syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Netherton's syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	3
Netherton's syndrome	Interprets	Keratinization	true	Inferred relationship	Some	3
Netherton's syndrome	Finding site	Entire skin	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
456246014	Netherton's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
456247017	Comel-Netherton syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
456248010	Axial osteosclerosis with bamboo hair	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
456250019	Netherton syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
709191013	Netherton's syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
912611000172112	syndrome de Netherton	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
948151000172112	NS - netherton syndrome	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module