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 keratinization\Congenital ichthyosis of skin

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinization\Congenital ichthyosis of skin
\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
\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\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 keratinization\Congenital ichthyosis of skin

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin
\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
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinization\Congenital ichthyosis of skin
\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
\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\Keratosis\Keratoderma\Ichthyosis\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	anomalie congénitale	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	anomalie congénitale	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	anomalie du développement	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 keratinization	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 (disorder)	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some
Dominant congenital ichthyosiform erythroderma	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Some
érythrokératodermie, trichorrhexie noueuse et dermatite atopique	Is a	False	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
A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Some
A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs.	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some
Keratinopathic ichthyosis (disorder)	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some
A rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Some
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some
A rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Some
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Some
Erythrokeratodermia variabilis	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995.	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Some

This concept is not in any reference sets

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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
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
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
1824431000195118	ittiosi cutanea congenita	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3393654013	ichtyose cutanée congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1571000172116	ichtyose congénitale de la peau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1008421000241117	ichtyose congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
50008421000188114	ichtyose congénitale cutanée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
422451000274110	Angeborene Ichthyosis	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
662331000274119	Kongenitale Ichthyose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module