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 keratinisation\...

\Rough skin\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 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 keratinisation\Rough skin\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\Abnormal keratinisation\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 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 anomaly\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 anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Netherton's syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

456246014 Netherton's syndrome en Synonym Active Case sensitive SNOMED CT core

456247017 Comel-Netherton syndrome en Synonym Active Case sensitive SNOMED CT core

456248010 Axial osteosclerosis with bamboo hair en Synonym Active Case insensitive SNOMED CT core

456250019 Netherton syndrome en Synonym Active Case sensitive SNOMED CT core

709191013 Netherton's syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Netherton's syndrome	Pathological process	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	Keratinisation	true	Inferred relationship	Some	3
Netherton's syndrome	Finding site	Entire skin	true	Inferred relationship	Some	1
Netherton's syndrome	Is a	Cutaneous syndrome with ichthyosis	true	Inferred relationship	Some
Netherton's syndrome	Is a	Disorder of skin appendage	true	Inferred relationship	Some
Netherton's syndrome	Associated morphology	Congenital anomaly	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	Congenital anomaly	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	Developmental abnormality	false	Inferred relationship	Some	2
Netherton's syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
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

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
456246014	Netherton's syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
456247017	Comel-Netherton syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
456248010	Axial osteosclerosis with bamboo hair	en	Synonym	Active	Case insensitive	SNOMED CT core
456250019	Netherton syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
709191013	Netherton's syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core