717041008: Syndromic recessive X-linked ichthyosis (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Rough skin\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis

\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis

\General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\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\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\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\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis

\Functional finding\Abnormal keratinization\...

\Rough skin\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis

\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Integumentary system finding\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\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\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Integumentary system finding\Abnormal keratinization\Rough skin\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Integumentary system finding\Abnormal keratinization\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\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\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Disease\Metabolic disease\Enzymopathy\Disorder involving deficiency of steryl-sulfatase (EC 3.1.6.2)\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Disease\Congenital disease\Inborn error of metabolism\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3308247010 Syndromic recessive X-linked ichthyosis (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3308248017 Syndromic recessive X-linked ichthyosis en Synonym Active Only initial character case insensitive SNOMED CT core module
3308249013 Syndromic X-linked ichthyosis en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Syndromic recessive X-linked ichthyosis	Associated morphology	Hyperkeratosis	false	Inferred relationship	Existential restriction modifier
Syndromic recessive X-linked ichthyosis	Is a	X-linked ichthyosis with steryl-sulfatase deficiency	true	Inferred relationship	Existential restriction modifier
Syndromic recessive X-linked ichthyosis	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Syndromic recessive X-linked ichthyosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Syndromic recessive X-linked ichthyosis	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Syndromic recessive X-linked ichthyosis	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Syndromic recessive X-linked ichthyosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Syndromic recessive X-linked ichthyosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Syndromic recessive X-linked ichthyosis	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier	1
Syndromic recessive X-linked ichthyosis	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	2
Syndromic recessive X-linked ichthyosis	Interprets	Keratinization, function	true	Inferred relationship	Existential restriction modifier	2
Syndromic recessive X-linked ichthyosis	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
3308247010	Syndromic recessive X-linked ichthyosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3308248017	Syndromic recessive X-linked ichthyosis	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3308249013	Syndromic X-linked ichthyosis	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module