72523005: X-linked ichthyosis with steryl-sulfatase deficiency (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

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

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

\Functional finding\Abnormal keratinization\...

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

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

\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
\Integumentary system finding\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\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
\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
\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
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\Integumentary system finding\Abnormal keratinization\Rough skin\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\Integumentary system finding\Abnormal keratinization\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\X-linked ichthyosis with steryl-sulfatase deficiency
\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
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\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
\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
\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
\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
\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
\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
\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
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\Metabolic disease\Enzymopathy\Disorder involving deficiency of steryl-sulfatase (EC 3.1.6.2)\X-linked ichthyosis with steryl-sulfatase deficiency
\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
\Disease\Congenital disease\Inborn error of metabolism\X-linked ichthyosis with steryl-sulfatase deficiency
\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
\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
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\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

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

120467017 Sex-linked ichthyosis en Synonym Active Entire term case insensitive SNOMED CT core module

200289014 X-linked ichthyosis en Synonym Active Entire term case sensitive SNOMED CT core module

200290017 X-linked ichthyosis with steryl-sulfatase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

502147010 X-linked ichthyosis with steryl-sulphatase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

812810018 X-linked ichthyosis with steryl-sulfatase deficiency (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
X-linked ichthyosis with steryl-sulfatase deficiency	Is a	Congenital ichthyosis of skin	true	Inferred relationship	Existential restriction modifier
X-linked ichthyosis with steryl-sulfatase deficiency	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
X-linked ichthyosis with steryl-sulfatase deficiency	Is a	Inborn error of metabolism	true	Inferred relationship	Existential restriction modifier
X-linked ichthyosis with steryl-sulfatase deficiency	Is a	Disorder involving deficiency of steryl-sulfatase (EC 3.1.6.2)	true	Inferred relationship	Existential restriction modifier
X-linked ichthyosis with steryl-sulfatase deficiency	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
X-linked ichthyosis with steryl-sulfatase deficiency	Associated morphology	Hyperkeratosis	false	Inferred relationship	Existential restriction modifier
X-linked ichthyosis with steryl-sulfatase deficiency	Finding site	Structure of skin region	false	Inferred relationship	Existential restriction modifier
X-linked ichthyosis with steryl-sulfatase deficiency	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
X-linked ichthyosis with steryl-sulfatase deficiency	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
X-linked ichthyosis with steryl-sulfatase deficiency	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
X-linked ichthyosis with steryl-sulfatase deficiency	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
X-linked ichthyosis with steryl-sulfatase deficiency	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
X-linked ichthyosis with steryl-sulfatase deficiency	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
X-linked ichthyosis with steryl-sulfatase deficiency	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
X-linked ichthyosis with steryl-sulfatase deficiency	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
X-linked ichthyosis with steryl-sulfatase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
X-linked ichthyosis with steryl-sulfatase deficiency	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier	1
X-linked ichthyosis with steryl-sulfatase deficiency	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	2
X-linked ichthyosis with steryl-sulfatase deficiency	Interprets	Keratinization, function	true	Inferred relationship	Existential restriction modifier	2
X-linked ichthyosis with steryl-sulfatase deficiency	Finding site	Entire skin	true	Inferred relationship	Existential restriction modifier	1
X-linked ichthyosis with steryl-sulfatase deficiency	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Syndromic recessive X-linked ichthyosis	Is a	True	X-linked ichthyosis with steryl-sulfatase deficiency	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
120467017	Sex-linked ichthyosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
200289014	X-linked ichthyosis	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
200290017	X-linked ichthyosis with steryl-sulfatase deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
502147010	X-linked ichthyosis with steryl-sulphatase deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
812810018	X-linked ichthyosis with steryl-sulfatase deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module