205550003: Lamellar ichthyosis (disorder)

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

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

\Rough skin (finding)\Congenital ichthyosis of skin\Lamellar ichthyosis

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

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

\Functional finding\Abnormal keratinization\...

\Rough skin (finding)\Congenital ichthyosis of skin\Lamellar ichthyosis

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lamellar ichthyosis	Is a	Congenital ichthyosis of skin	true	Inferred relationship	Some
Lamellar ichthyosis	Is a	Dermatosis of infancy	false	Inferred relationship	Some
Lamellar ichthyosis	Finding site	Structure of skin region	false	Inferred relationship	Some
Lamellar ichthyosis	Occurrence	Congenital	false	Inferred relationship	Some
Lamellar ichthyosis	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Lamellar ichthyosis	Finding site	Skin structure	false	Inferred relationship	Some	1
Lamellar ichthyosis	Finding site	Skin structure	false	Inferred relationship	Some	2
Lamellar ichthyosis	Occurrence	Infancy	false	Inferred relationship	Some
Lamellar ichthyosis	Associated morphology	Hyperkeratosis	false	Inferred relationship	Some	1
Lamellar ichthyosis	Finding site	Skin structure	false	Inferred relationship	Some	1
Lamellar ichthyosis	Finding site	Skin structure	false	Inferred relationship	Some	2
Lamellar ichthyosis	Finding site	Skin structure	false	Inferred relationship	Some	1
Lamellar ichthyosis	Finding site	Skin structure	false	Inferred relationship	Some	2
Lamellar ichthyosis	Finding site	Skin structure	false	Inferred relationship	Some	1
Lamellar ichthyosis	Finding site	Skin structure	false	Inferred relationship	Some	2
Lamellar ichthyosis	Finding site	Skin structure	false	Inferred relationship	Some	1
Lamellar ichthyosis	Finding site	Skin structure	false	Inferred relationship	Some	2
Lamellar ichthyosis	Finding site	Skin structure	false	Inferred relationship	Some	1
Lamellar ichthyosis	Finding site	Skin structure	false	Inferred relationship	Some	2
Lamellar ichthyosis	Occurrence	Fetal or neonatal period	false	Inferred relationship	Some
Lamellar ichthyosis	Occurrence	Congenital	false	Inferred relationship	Some	3
Lamellar ichthyosis	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Lamellar ichthyosis	Finding site	Skin structure	false	Inferred relationship	Some	3
Lamellar ichthyosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Lamellar ichthyosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Lamellar ichthyosis	Associated morphology	Proliferative hyperkeratosis	true	Inferred relationship	Some	1
Lamellar ichthyosis	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Lamellar ichthyosis	Interprets	Keratinization	true	Inferred relationship	Some	2
Lamellar ichthyosis	Finding site	Entire skin	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Erythrodermic lamellar ichthyosis	Is a	True	Lamellar ichthyosis	Inferred relationship	Some
Non-erythrodermic lamellar ichthyosis	Is a	True	Lamellar ichthyosis	Inferred relationship	Some
Autosomal dominant lamellar ichthyosis	Is a	True	Lamellar ichthyosis	Inferred relationship	Some
Lamellar ichthyosis (limited type) (disorder)	Is a	True	Lamellar ichthyosis	Inferred relationship	Some
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	Lamellar ichthyosis	Inferred relationship	Some
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.	Is a	True	Lamellar ichthyosis	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	Lamellar ichthyosis	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
315216017	Lamellar ichthyosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
315218016	Collodion baby	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
590934011	Lamellar ichthyosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
922791000172115	ichtyose lamellaire classique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1006511000172116	ichtyose lamellaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3423601001000117	Ichthyose, lamelläre	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module