402772005: Autosomal recessive ichthyosis (disorder)

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

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

\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)

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

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

\Functional finding\Abnormal keratinization\...

\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)

\Disorder of keratinisation\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)
\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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive ichthyosis (disorder)
\Integumentary system finding\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)
\Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis (disorder)
\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\Autosomal recessive ichthyosis (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)
\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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive ichthyosis (disorder)
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive ichthyosis (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1770696013 Autosomal recessive ichthyosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1781866015 Autosomal recessive ichthyosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5261521000241115 ichtyose autosomale récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3417311001000111 Ichthyose, autosomal-rezessive kongenitale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive ichthyosis (disorder)	Is a	Congenital ichthyosis of skin	true	Inferred relationship	Some
Autosomal recessive ichthyosis (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Autosomal recessive ichthyosis (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Autosomal recessive ichthyosis (disorder)	Finding site	Structure of skin region	false	Inferred relationship	Some
Autosomal recessive ichthyosis (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Autosomal recessive ichthyosis (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Autosomal recessive ichthyosis (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Autosomal recessive ichthyosis (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Autosomal recessive ichthyosis (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Autosomal recessive ichthyosis (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
Autosomal recessive ichthyosis (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive ichthyosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive ichthyosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive ichthyosis (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Autosomal recessive ichthyosis (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Autosomal recessive ichthyosis (disorder)	Interprets	Keratinization	true	Inferred relationship	Some	2
Autosomal recessive ichthyosis (disorder)	Finding site	Entire skin	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.	Is a	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia.	Is a	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma.	Is a	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Ichthyosis-hypotrichosis syndrome is characterized by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.	Is a	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.	Is a	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.	Is a	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two siblings born to first cousin parents. Transmission appears to be autosomal recessive.	Is a	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Congenital cataract ichthyosis syndrome	Is a	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.	Is a	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.	Is a	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.	Is a	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Ichthyosis linearis circumflexa	Is a	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Harlequin ichthyosis	Is a	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.	Is a	False	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.	Is a	True	Autosomal recessive ichthyosis (disorder)	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	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.	Is a	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.	Is a	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder)	Is a	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Autosomal recessive epidermolytic ichthyosis (disorder)	Is a	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
A group of rare autosomal recessive forms of ichthyosis clinically characterized by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution for generalized PSS type A (noninflammatory) or B (inflammatory).	Is a	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported.	Is a	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Netherton syndrome	Is a	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1770696013	Autosomal recessive ichthyosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1781866015	Autosomal recessive ichthyosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5261521000241115	ichtyose autosomale récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3417311001000111	Ichthyose, autosomal-rezessive kongenitale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module