312514006: Netherton's syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disorder of skin\Disorder of skin appendage\Netherton's syndrome
\Disorder of skin\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\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Netherton's syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\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 of skin\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 of skin\Disorder of skin appendage\Netherton's 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\Cutaneous syndrome with ichthyosis\Netherton's syndrome

\Functional finding\Abnormal keratinization\...

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

\Disorder of keratinization\Inherited disorder of keratinization\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 keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\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 of skin\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 of skin\Disorder of skin appendage\Netherton's 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\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\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Netherton's syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\Abnormal keratinization\Rough skin\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\Abnormal keratinization\Disorder of keratinization\Inherited disorder of keratinization\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 keratinization\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 keratinization\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 keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\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 of skin\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 of skin\Disorder of skin appendage\Netherton's 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\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\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 of skin\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 of skin\Disorder of skin appendage\Netherton's 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\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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

456246014 Netherton's syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

456247017 Comel-Netherton syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

456248010 Axial osteosclerosis with bamboo hair en Synonym Active Entire term case insensitive SNOMED CT core module

456250019 Netherton syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

709191013 Netherton's syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Netherton's syndrome	Is a	Cutaneous syndrome with ichthyosis	true	Inferred relationship	Existential restriction modifier
Netherton's syndrome	Finding site	Hair appendage structure	true	Inferred relationship	Existential restriction modifier	2
Netherton's syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Netherton's syndrome	Finding site	Structure of skin region	false	Inferred relationship	Existential restriction modifier
Netherton's syndrome	Is a	Disorder of skin appendage	true	Inferred relationship	Existential restriction modifier
Netherton's syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Netherton's syndrome	Is a	Site-specific disorder of skin	false	Inferred relationship	Existential restriction modifier
Netherton's syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Netherton's syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Netherton's syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Netherton's syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Netherton's syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Netherton's syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Netherton's syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Netherton's syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Netherton's syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier	1
Netherton's syndrome	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	3
Netherton's syndrome	Interprets	Keratinization, function	true	Inferred relationship	Existential restriction modifier	3
Netherton's syndrome	Finding site	Entire skin	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
456246014	Netherton's syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
456247017	Comel-Netherton syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
456248010	Axial osteosclerosis with bamboo hair	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
456250019	Netherton syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
709191013	Netherton's syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module