34638006: Lamellar ichthyosis AND trichorrhexis invaginata syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Rough skin\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome

\Hair finding\Disorder of hair\Disorder of hair shaft\Trichorrhexis\Lamellar ichthyosis AND trichorrhexis invaginata syndrome

\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Trichorrhexis\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome

\General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Trichorrhexis\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Trichorrhexis\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata 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\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Trichorrhexis\Lamellar ichthyosis AND trichorrhexis invaginata 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\Lamellar ichthyosis AND trichorrhexis invaginata syndrome

\Functional finding\Abnormal keratinisation\...

\Rough skin\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome

\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Trichorrhexis\Lamellar ichthyosis AND trichorrhexis invaginata 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\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Trichorrhexis\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Trichorrhexis\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Integumentary system finding\Abnormal keratinisation\Rough skin\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata 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\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Trichorrhexis\Lamellar ichthyosis AND trichorrhexis invaginata 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\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Trichorrhexis\Lamellar ichthyosis AND trichorrhexis invaginata 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\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

57806017 Lamellar ichthyosis AND trichorrhexis invaginata syndrome en Synonym Active Initial character case insensitive SNOMED CT core

57808016 Netherton's disease en Synonym Active Case sensitive SNOMED CT core

766185018 Lamellar ichthyosis AND trichorrhexis invaginata syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Interprets	Keratinisation	true	Inferred relationship	Some	2
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Finding site	Entire skin	true	Inferred relationship	Some	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Is a	Congenital anomaly of hair	false	Inferred relationship	Some
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Finding site	Hair structure	false	Inferred relationship	Some
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Is a	Congenital ichthyosis of skin	true	Inferred relationship	Some
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Is a	Trichorrhexis	true	Inferred relationship	Some
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Finding site	Hair shaft structure	true	Inferred relationship	Some	3
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Finding site	Structure of skin region	false	Inferred relationship	Some
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Finding site	Hair structure	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
57806017	Lamellar ichthyosis AND trichorrhexis invaginata syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
57808016	Netherton's disease	en	Synonym	Active	Case sensitive	SNOMED CT core
766185018	Lamellar ichthyosis AND trichorrhexis invaginata syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core