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254156001: Congenital ichthyosiform erythroderma (disorder)

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

\Functional finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma (disorder)
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma (disorder)
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital ichthyosiform erythroderma (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma (disorder)

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
Congenital ichthyosiform erythroderma (disorder)	Is a	Ichthyosiform erythroderma	true	Inferred relationship	Some
Congenital ichthyosiform erythroderma (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Congenital ichthyosiform erythroderma (disorder)	Finding site	Structure of skin region	false	Inferred relationship	Some
Congenital ichthyosiform erythroderma (disorder)	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital ichthyosiform erythroderma (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital ichthyosiform erythroderma (disorder)	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Some
Congenital ichthyosiform erythroderma (disorder)	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital ichthyosiform erythroderma (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital ichthyosiform erythroderma (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital ichthyosiform erythroderma (disorder)	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Congenital ichthyosiform erythroderma (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
Congenital ichthyosiform erythroderma (disorder)	Is a	Congenital disease	true	Inferred relationship	Some
Congenital ichthyosiform erythroderma (disorder)	Finding site	Structure of integumentary system (body structure)	false	Inferred relationship	Some
Congenital ichthyosiform erythroderma (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	1
Congenital ichthyosiform erythroderma (disorder)	Interprets	Keratinization	true	Inferred relationship	Some	1
Congenital ichthyosiform erythroderma (disorder)	Finding site	Structure of integumentary system (body structure)	true	Inferred relationship	Some	2
Congenital ichthyosiform erythroderma (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital reticular ichthyosiform erythroderma (disorder)	Is a	True	Congenital ichthyosiform erythroderma (disorder)	Inferred relationship	Some
A rare developmental defect during embryogenesis with characteristics of unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. NSDHL (Xq28) encodes a protein responsible for cholesterol biosynthesis, mutations are typically lethal in males. X-inactivation creates a mosaic of cells lacking the enzyme in females, disrupting embryonic development and leading to a highly variable spectrum of anomalies. Transmission is X-linked dominant.	Is a	True	Congenital ichthyosiform erythroderma (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378335017	Congenital ichthyosiform erythroderma	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378336016	Alligator skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645008019	Congenital ichthyosiform erythroderma (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1453481000005116	Kongenit iktyosiform erytrodermi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)