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 keratinization\...

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

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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\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 keratinization\Rough skin\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Integumentary system finding\Abnormal keratinization\Disorder of keratinization\Inherited disorder of keratinization\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 keratinization\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 keratinization\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 keratinization\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\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 malformation\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 malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Lamellar ichthyosis AND trichorrhexis invaginata 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

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

57808016 Netherton's disease en Synonym Active Entire term case sensitive SNOMED CT core module

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Is a	Congenital ichthyosis of skin	true	Inferred relationship	Existential restriction modifier
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Is a	Trichorrhexis	true	Inferred relationship	Existential restriction modifier
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Finding site	Structure of skin region	false	Inferred relationship	Existential restriction modifier
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Finding site	Hair structure	false	Inferred relationship	Existential restriction modifier
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Is a	Congenital anomaly of hair	false	Inferred relationship	Existential restriction modifier
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Finding site	Hair structure	false	Inferred relationship	Existential restriction modifier
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Finding site	Hair shaft structure	true	Inferred relationship	Existential restriction modifier	3
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Interprets	Keratinization, function	true	Inferred relationship	Existential restriction modifier	2
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	2
Lamellar ichthyosis AND trichorrhexis invaginata 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

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Id	Description	Lang	Type	Status	Case?	Module
57806017	Lamellar ichthyosis AND trichorrhexis invaginata syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
57808016	Netherton's disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
766185018	Lamellar ichthyosis AND trichorrhexis invaginata syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module