48611009: Darier disease (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Darier disease

\General finding of soft tissue (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Darier disease
\General finding of soft tissue (finding)\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Darier disease

\Functional finding\Darier disease

\Disease\Genetic disease\Hereditary disease\Autosomal dominant hereditary disorder\Darier disease
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of skin (disorder)\Darier disease
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Darier disease
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Darier disease
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of skin (disorder)\Darier disease

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

81003012 Keratosis follicularis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

81004018 Darier's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

81005017 Dyskeratosis follicularis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

81006016 Darier-White disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

495158015 Psorospermosis follicularis vegetans en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

495159011 Psorospermosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

3035506010 Darier disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

3635593015 Darier disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Darier disease	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Darier disease	Is a	Functional finding	true	Inferred relationship	Some
Darier disease	Is a	Congenital anomaly of skin (disorder)	true	Inferred relationship	Some
Darier disease	Associated morphology	Acantholysis	true	Inferred relationship	Some	1
Darier disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Darier disease	Finding site	Skin structure	true	Inferred relationship	Some	1
Darier disease	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Some	1
Darier disease	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Darier disease	Interprets	Keratinization	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

International Patient Summary