13059002: Congenital ichthyosis of skin (disorder)

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

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

\Rough skin (finding)\Congenital ichthyosis of skin

\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin

\General finding of soft tissue\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin
\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
\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

\Functional finding\Abnormal keratinization\...

\Rough skin (finding)\Congenital ichthyosis of skin

\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin
\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
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin
\Integumentary system finding\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin
\Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin
\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
\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
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin
\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
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin

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
Congenital ichthyosis of skin	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Congenital ichthyosis of skin	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Congenital ichthyosis of skin	Finding site	Structure of skin region	false	Inferred relationship	Some
Congenital ichthyosis of skin	Occurrence	Congenital	false	Inferred relationship	Some
Congenital ichthyosis of skin	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital ichthyosis of skin	Is a	Site-specific disorder of skin	false	Inferred relationship	Some
Congenital ichthyosis of skin	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital ichthyosis of skin	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital ichthyosis of skin	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital ichthyosis of skin	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital ichthyosis of skin	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Congenital ichthyosis of skin	Finding site	Skin structure	false	Inferred relationship	Some	2
Congenital ichthyosis of skin	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital ichthyosis of skin	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital ichthyosis of skin	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital ichthyosis of skin	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Congenital ichthyosis of skin	Is a	Genodermatosis	true	Inferred relationship	Some
Congenital ichthyosis of skin	Interprets	Keratinization	true	Inferred relationship	Some	2
Congenital ichthyosis of skin	Is a	Ichthyosis	true	Inferred relationship	Some
Congenital ichthyosis of skin	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Congenital ichthyosis of skin	Is a	Inherited disorder of keratinisation	true	Inferred relationship	Some
Congenital ichthyosis of skin	Finding site	Entire skin	true	Inferred relationship	Some	1
Congenital ichthyosis of skin	Is a	Rough skin (finding)	true	Inferred relationship	Some
Congenital ichthyosis of skin	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Harlequin ichthyosis	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Some
Lamellar ichthyosis	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some
Ichthyosis congenita with biliary atresia	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some
Cutaneous syndrome with ichthyosis	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some
Ichthyosis vulgaris	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some
Severe ichthyoses	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some
Non-bullous ichthyosiform erythroderma	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Some
Bullous ichthyosis	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Some
Congenital non bullous ichthyosiform erythroderma	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some
Dominant congenital ichthyosiform erythroderma	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Some
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some
Ichthyosis linearis circumflexa	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Some
Ichthyosis hystrix	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some
X-linked ichthyosis with steryl-sulfatase deficiency	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some
Ichthyosiform erythroderma	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Some
Congenital ichthyosis, unspecified	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Some
[X]Other congenital ichthyosis	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Some
Follicular ichthyosis	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some
Autosomal dominant ichthyosis (disorder)	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some
X-linked recessive ichthyosis	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Some
Autosomal recessive ichthyosis (disorder)	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some
Rud's syndrome	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder)	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some
Keratinopathic ichthyosis (disorder)	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some
Ichthyosis prematurity syndrome	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder)	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Some
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Some
Erythrokeratodermia variabilis	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some

Reference Sets

Belgian GP subset (foundation metadata concept)

Belgian subset for medical problems in patient health records

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Id	Description	Lang	Type	Status	Case?	Module
22354012	Congenital ichthyosis of skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
22355013	Congenital ichthyosis of skin, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
22356014	Ichthyosis congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
22357017	Congenital ichthyosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
22358010	Fish scale disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
22359019	Ichthyosis, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
22360012	Fish skin, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
22361011	Ichthyosis	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
22362016	Fish skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
734885013	Congenital ichthyosis of skin (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1571000172116	ichtyose congénitale de la peau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1581000172118	congenitale ichthyose van huid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)