48611009: Darier disease (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\...

\Degenerative skin disorder\Acantholytic dermatosis\Hereditary acantholytic dermatosis\Keratosis follicularis

\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis

\General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Acantholytic dermatosis\Hereditary acantholytic dermatosis\Keratosis follicularis
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Acantholytic dermatosis\Hereditary acantholytic dermatosis\Keratosis follicularis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis

\Functional finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Acantholytic dermatosis\Hereditary acantholytic dermatosis\Keratosis follicularis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis
\Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Acantholytic dermatosis\Hereditary acantholytic dermatosis\Keratosis follicularis
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary acantholytic dermatosis\Keratosis follicularis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Keratosis follicularis
\Disease\Degenerative disorder\Degenerative skin disorder\Acantholytic dermatosis\Hereditary acantholytic dermatosis\Keratosis follicularis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Acantholytic dermatosis\Hereditary acantholytic dermatosis\Keratosis follicularis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Acantholytic dermatosis\Hereditary acantholytic dermatosis\Keratosis follicularis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary acantholytic dermatosis\Keratosis follicularis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3035506010 Darier disease en Synonym Active Case sensitive SNOMED CT core

3635593015 Darier disease (disorder) en Fully specified name Active Case sensitive SNOMED CT core

495158015 Psorospermosis follicularis vegetans en Synonym Active Case insensitive SNOMED CT core

495159011 Psorospermosis en Synonym Active Case insensitive SNOMED CT core

81003012 Keratosis follicularis en Synonym Active Case insensitive SNOMED CT core

81004018 Darier's disease en Synonym Active Case sensitive SNOMED CT core

81005017 Dyskeratosis follicularis en Synonym Active Case insensitive SNOMED CT core

81006016 Darier-White disease en Synonym Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Keratosis follicularis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Keratosis follicularis	Has definitional manifestation	Abnormal keratinisation	false	Inferred relationship	Some
Keratosis follicularis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Keratosis follicularis	Is a	Hereditary acantholytic dermatosis	true	Inferred relationship	Some
Keratosis follicularis	Associated morphology	Epithelial hyperplasia	false	Inferred relationship	Some	1
Keratosis follicularis	Is a	Hereditary follicular keratoses	false	Inferred relationship	Some
Keratosis follicularis	Finding site	Skin structure	false	Inferred relationship	Some	2
Keratosis follicularis	Associated morphology	Follicular hyperkeratosis	false	Inferred relationship	Some	1
Keratosis follicularis	Finding site	Hair follicle structure	false	Inferred relationship	Some	1
Keratosis follicularis	Associated morphology	Follicular hyperkeratosis	false	Inferred relationship	Some	1
Keratosis follicularis	Finding site	Hair follicle structure	false	Inferred relationship	Some	1
Keratosis follicularis	Finding site	Skin structure	false	Inferred relationship	Some	2
Keratosis follicularis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Keratosis follicularis	Occurrence	Congenital	false	Inferred relationship	Some	3
Keratosis follicularis	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Keratosis follicularis	Finding site	Skin structure	false	Inferred relationship	Some	3
Keratosis follicularis	Occurrence	Congenital	false	Inferred relationship	Some
Keratosis follicularis	Finding site	Skin structure	false	Inferred relationship	Some	2
Keratosis follicularis	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Keratosis follicularis	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Keratosis follicularis	Finding site	Structure of integumentary system	false	Inferred relationship	Some
Keratosis follicularis	Has interpretation	Abnormal	true	Inferred relationship	Some	3
Keratosis follicularis	Interprets	Keratinisation	true	Inferred relationship	Some	3
Keratosis follicularis	Associated morphology	Acantholysis	true	Inferred relationship	Some	1
Keratosis follicularis	Occurrence	Congenital	true	Inferred relationship	Some	1
Keratosis follicularis	Finding site	Skin structure	true	Inferred relationship	Some	1
Keratosis follicularis	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Keratosis follicularis	Occurrence	Congenital	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Palmar pitting due to Darier disease	Due to	True	Keratosis follicularis	Inferred relationship	Some	4
Acrokeratosis verruciformis of Darier disease	Is a	True	Keratosis follicularis	Inferred relationship	Some
Flexural Darier's disease	Is a	True	Keratosis follicularis	Inferred relationship	Some
Hypertrophic Darier's disease	Is a	True	Keratosis follicularis	Inferred relationship	Some
Linear/nevoid/zosteriform Darier's disease	Is a	True	Keratosis follicularis	Inferred relationship	Some
Acral Darier's disease	Is a	True	Keratosis follicularis	Inferred relationship	Some
Palmar pitting due to Darier disease	Is a	True	Keratosis follicularis	Inferred relationship	Some
Nail dystrophy due to Darier's disease	Is a	False	Keratosis follicularis	Inferred relationship	Some
Nail dystrophy due to Darier's disease	Due to	True	Keratosis follicularis	Inferred relationship	Some	3
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	False	Keratosis follicularis	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3035506010	Darier disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3635593015	Darier disease (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
495158015	Psorospermosis follicularis vegetans	en	Synonym	Active	Case insensitive	SNOMED CT core
495159011	Psorospermosis	en	Synonym	Active	Case insensitive	SNOMED CT core
81003012	Keratosis follicularis	en	Synonym	Active	Case insensitive	SNOMED CT core
81004018	Darier's disease	en	Synonym	Active	Case sensitive	SNOMED CT core
81005017	Dyskeratosis follicularis	en	Synonym	Active	Case insensitive	SNOMED CT core
81006016	Darier-White disease	en	Synonym	Active	Case sensitive	SNOMED CT core