72523005: X-gebonden ichthyosis met deficiëntie van steroïdsulfatase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

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

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

\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\Disorder of skin (disorder)\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 (finding)\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\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)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency

\Functional finding\Abnormal keratinization\...

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

\Disorder of keratinisation\Inherited disorder of keratinisation\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 keratinisation\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\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)\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\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)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\Integumentary system finding\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\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 keratinisation\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 foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\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 keratinisation\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\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)\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\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)\Disorder of skin (disorder)\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\Deficiency of steryl-sulfatase\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\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)\Disorder of skin (disorder)\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 (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

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	Some
X-linked ichthyosis with steryl-sulfatase deficiency	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked ichthyosis with steryl-sulfatase deficiency	Is a	Inborn error of metabolism	true	Inferred relationship	Some
X-linked ichthyosis with steryl-sulfatase deficiency	Is a	Deficiency of steryl-sulfatase	true	Inferred relationship	Some
X-linked ichthyosis with steryl-sulfatase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
X-linked ichthyosis with steryl-sulfatase deficiency	Associated morphology	Hyperkeratosis	false	Inferred relationship	Some
X-linked ichthyosis with steryl-sulfatase deficiency	Finding site	Structure of skin region	false	Inferred relationship	Some
X-linked ichthyosis with steryl-sulfatase deficiency	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
X-linked ichthyosis with steryl-sulfatase deficiency	Finding site	Skin structure	false	Inferred relationship	Some	1
X-linked ichthyosis with steryl-sulfatase deficiency	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
X-linked ichthyosis with steryl-sulfatase deficiency	Finding site	Skin structure	false	Inferred relationship	Some	1
X-linked ichthyosis with steryl-sulfatase deficiency	Occurrence	Congenital	false	Inferred relationship	Some	2
X-linked ichthyosis with steryl-sulfatase deficiency	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
X-linked ichthyosis with steryl-sulfatase deficiency	Finding site	Skin structure	false	Inferred relationship	Some	2
X-linked ichthyosis with steryl-sulfatase deficiency	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked ichthyosis with steryl-sulfatase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked ichthyosis with steryl-sulfatase deficiency	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
X-linked ichthyosis with steryl-sulfatase deficiency	Has interpretation	Abnormal	true	Inferred relationship	Some	2
X-linked ichthyosis with steryl-sulfatase deficiency	Interprets	Keratinization	true	Inferred relationship	Some	2
X-linked ichthyosis with steryl-sulfatase deficiency	Finding site	Entire skin	true	Inferred relationship	Some	1
X-linked ichthyosis with steryl-sulfatase deficiency	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Syndromic recessive X-linked ichthyosis (disorder)	Is a	True	X-linked ichthyosis with steryl-sulfatase deficiency	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
120467017	Sex-linked ichthyosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
200289014	X-linked ichthyosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
200290017	X-linked ichthyosis with steryl-sulfatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
502147010	X-linked ichthyosis with steryl-sulphatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
812810018	X-linked ichthyosis with steryl-sulfatase deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6170531000146118	X-gebonden ichthyosis met deficiëntie van steroïdsulfatase	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6170541000146114	X-gebonden ichthyosis	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6170551000146112	geslachtsgebonden ichtyose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6678741000146115	X-gebonden ichthyosis met deficiëntie van steroïdsulfatase (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)