717041008: Syndromic recessive X-linked ichthyosis (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\Syndromic recessive X-linked ichthyosis (disorder)

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

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

\Functional finding\Abnormal keratinization\...

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

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

\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\Syndromic recessive X-linked ichthyosis (disorder)
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
\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\Syndromic recessive X-linked ichthyosis (disorder)
\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\Syndromic recessive X-linked ichthyosis (disorder)
\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 (disorder)
\Integumentary system finding\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
\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\Syndromic recessive X-linked ichthyosis (disorder)
\Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)

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

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

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 (core metadata concept) SNOMED CT core

3308248017 Syndromic recessive X-linked ichthyosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3308249013 Syndromic X-linked ichthyosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3308250013 Refers to cases of recessive X-linked ichthyosis (RXLI) that are associated with extracutaneous manifestations as part of a syndrome. It affects almost exclusively males. Cutaneous manifestations include hyperkeratosis and scaling of the skin. Non cutaneous manifestations may be corneal opacity, late puberty, cryptorchidism and a higher frequency of testicular cancer. Manifestations due to contiguous gene syndrome include neurological abnormalities such as epilepsy and hyposmia, intellectual deficit and/or short stature. Transmission is X-linked recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

908241000172113 ichtyose liée à l'X avec manifestations extra-cutanées fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

998541000172112 ichtyose liée à l'X syndromique fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

964661000172116 syndromale X-gebonden ichthyosis nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

968481000172117 syndromale RXLI (recessive X-linked ichthyosis) nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Syndromic recessive X-linked ichthyosis (disorder)	Associated morphology	Hyperkeratosis	false	Inferred relationship	Some
Syndromic recessive X-linked ichthyosis (disorder)	Is a	X-linked ichthyosis with steryl-sulfatase deficiency	true	Inferred relationship	Some
Syndromic recessive X-linked ichthyosis (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Syndromic recessive X-linked ichthyosis (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Syndromic recessive X-linked ichthyosis (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
Syndromic recessive X-linked ichthyosis (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Syndromic recessive X-linked ichthyosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Syndromic recessive X-linked ichthyosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Syndromic recessive X-linked ichthyosis (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Syndromic recessive X-linked ichthyosis (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Syndromic recessive X-linked ichthyosis (disorder)	Interprets	Keratinization	true	Inferred relationship	Some	2
Syndromic recessive X-linked ichthyosis (disorder)	Finding site	Entire skin	true	Inferred relationship	Some	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 (core metadata concept)	SNOMED CT core
3308248017	Syndromic recessive X-linked ichthyosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308249013	Syndromic X-linked ichthyosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308250013	Refers to cases of recessive X-linked ichthyosis (RXLI) that are associated with extracutaneous manifestations as part of a syndrome. It affects almost exclusively males. Cutaneous manifestations include hyperkeratosis and scaling of the skin. Non cutaneous manifestations may be corneal opacity, late puberty, cryptorchidism and a higher frequency of testicular cancer. Manifestations due to contiguous gene syndrome include neurological abnormalities such as epilepsy and hyposmia, intellectual deficit and/or short stature. Transmission is X-linked recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
908241000172113	ichtyose liée à l'X avec manifestations extra-cutanées	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
998541000172112	ichtyose liée à l'X syndromique	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
964661000172116	syndromale X-gebonden ichthyosis	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
968481000172117	syndromale RXLI (recessive X-linked ichthyosis)	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)