782957005: Ichthyosis (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Keratoderma\Ichthyosis

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma\Ichthyosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis

\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis
\Disease\Keratosis\Keratoderma\Ichthyosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis

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

3756928013 Ichthyosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3756929017 Ichthyosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1851481000195116 ittiosi vulgaris it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5590961000241117 ichtyose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ichthyosis	Finding site	Skin structure	false	Inferred relationship	Some	1
Ichthyosis	Is a	Keratosis	false	Inferred relationship	Some
Ichthyosis	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Ichthyosis	Interprets	Keratinization	false	Inferred relationship	Some	2
Ichthyosis	Has interpretation	Abnormal	false	Inferred relationship	Some	2
Ichthyosis	Is a	Rough skin (finding)	false	Inferred relationship	Some
Ichthyosis	Is a	Keratoderma	true	Inferred relationship	Some
Ichthyosis	Finding site	Entire skin	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Porokeratosis of Mibelli	Is a	False	Ichthyosis	Inferred relationship	Some
Leukokeratosis of skin	Is a	False	Ichthyosis	Inferred relationship	Some
Acquired ichthyosis	Is a	True	Ichthyosis	Inferred relationship	Some
Erythrokeratodermia variabilis	Is a	False	Ichthyosis	Inferred relationship	Some
Keratoderma	Is a	False	Ichthyosis	Inferred relationship	Some
Congenital ichthyosis of skin	Is a	True	Ichthyosis	Inferred relationship	Some
Follicular keratosis	Is a	False	Ichthyosis	Inferred relationship	Some
Arsenical keratosis (disorder)	Is a	False	Ichthyosis	Inferred relationship	Some
Actinic keratosis (disorder)	Is a	False	Ichthyosis	Inferred relationship	Some
Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toenails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.	Is a	True	Ichthyosis	Inferred relationship	Some
Harlequin fetus	Is a	True	Ichthyosis	Inferred relationship	Some
A rare genetic disease characterised by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalised hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesaemia, hypokalaemia, hypercalcaemia, and hypocalciuria.	Is a	True	Ichthyosis	Inferred relationship	Some
Ichthyosis hystrix	Is a	True	Ichthyosis	Inferred relationship	Some

This concept is not in any reference sets