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

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)\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)\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)\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 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 keratinisation\Inherited disorder of keratinization\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\Integumentary system finding\Disorder of integument\Fetal and/or neonatal 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\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder 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)\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 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\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\Fetal and/or neonatal disorder\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\Fetal and/or neonatal disorder\Congenital disease\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 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 keratinisation\Inherited disorder of keratinization\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\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)\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)\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	anomalie congénitale	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	anomalie congénitale	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	anomalie du développement	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
A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) characterized by a generally mild cutaneous desquamation in association with extracutaneous manifestations as part of a syndrome.	Is a	True	X-linked ichthyosis with steryl-sulfatase deficiency	Inferred relationship	Some

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 (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
4627331000241118	ichtyose liée à X avec carence en stéryl-sulfatase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3393561001000116	Ichthyose, X-chromosomal-rezessive	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module