722391005: Congenital lethal erythroderma (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Rash\Erythema of skin\Erythroderma\Congenital lethal erythroderma
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Inflammatory dermatosis\Congenital lethal erythroderma
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Rash\Erythema of skin\Erythroderma\Congenital lethal erythroderma

\General finding of soft tissue\Skin finding\Disorder of skin\Inflammatory dermatosis\Congenital lethal erythroderma
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Rash\Erythema of skin\Erythroderma\Congenital lethal erythroderma
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Rash\Erythema of skin\Erythroderma\Congenital lethal erythroderma
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Congenital lethal erythroderma
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Inflammatory dermatosis\Congenital lethal erythroderma
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Rash\Erythema of skin\Erythroderma\Congenital lethal erythroderma

\Erythema\Erythema of skin\Erythroderma\Congenital lethal erythroderma

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Congenital lethal erythroderma
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Congenital lethal erythroderma
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Inflammatory dermatosis\Congenital lethal erythroderma
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Rash\Erythema of skin\Erythroderma\Congenital lethal erythroderma
\Integumentary system finding\Skin finding\Disorder of skin\Inflammatory dermatosis\Congenital lethal erythroderma
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Rash\Erythema of skin\Erythroderma\Congenital lethal erythroderma

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Congenital lethal erythroderma
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital lethal erythroderma
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Congenital lethal erythroderma
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Congenital lethal erythroderma
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Rash\Erythema of skin\Erythroderma\Congenital lethal erythroderma
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Congenital lethal erythroderma
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Congenital lethal erythroderma
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Inflammatory dermatosis\Congenital lethal erythroderma
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Rash\Erythema of skin\Erythroderma\Congenital lethal erythroderma
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Congenital lethal erythroderma
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Inflammatory dermatosis\Congenital lethal erythroderma
\Disease\Congenital disease\Congenital lethal erythroderma
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Rash\Erythema of skin\Erythroderma\Congenital lethal erythroderma
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Inflammation of skin and/or subcutaneous tissue\Inflammatory dermatosis\Congenital lethal erythroderma
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Inflammatory dermatosis\Congenital lethal erythroderma
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Rash\Erythema of skin\Erythroderma\Congenital lethal erythroderma

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3331824010 Congenital lethal erythroderma (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3331825011 Congenital lethal erythroderma en Synonym Active Case insensitive SNOMED CT core

3331826012 A rare skin disorder characterized by erythrodermic peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992. en Definition Active Case sensitive SNOMED CT core

3331827015 A rare skin disorder characterised by erythrodermic peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhoea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital lethal erythroderma	Associated morphology	Erythema	false	Inferred relationship	Some	2
Congenital lethal erythroderma	Is a	Inflammatory dermatosis	true	Inferred relationship	Some
Congenital lethal erythroderma	Is a	Inflammation of specific body organs	false	Inferred relationship	Some
Congenital lethal erythroderma	Associated morphology	Inflammatory morphology	true	Inferred relationship	Some	1
Congenital lethal erythroderma	Is a	Inflammatory hereditary disorder	false	Inferred relationship	Some
Congenital lethal erythroderma	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital lethal erythroderma	Associated morphology	Exfoliative erythema	true	Inferred relationship	Some	2
Congenital lethal erythroderma	Is a	Congenital disease	true	Inferred relationship	Some
Congenital lethal erythroderma	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital lethal erythroderma	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Congenital lethal erythroderma	Is a	Erythroderma	true	Inferred relationship	Some
Congenital lethal erythroderma	Associated morphology	Inflammation	false	Inferred relationship	Some	1
Congenital lethal erythroderma	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital lethal erythroderma	Finding site	Skin structure	true	Inferred relationship	Some	1
Congenital lethal erythroderma	Associated morphology	Diffuse inflammation	false	Inferred relationship	Some	2
Congenital lethal erythroderma	Finding site	Skin structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3331824010	Congenital lethal erythroderma (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3331825011	Congenital lethal erythroderma	en	Synonym	Active	Case insensitive	SNOMED CT core
3331826012	A rare skin disorder characterized by erythrodermic peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.	en	Definition	Active	Case sensitive	SNOMED CT core
3331827015	A rare skin disorder characterised by erythrodermic peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhoea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.	en	Definition	Active	Case sensitive	SNOMED CT core