789159005: Focal facial dermal dysplasia type II (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type II

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type II
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type II

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Focal facial dermal dysplasia type II
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type II
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type II
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type II

\Disease\Genetic disease\Focal facial dermal dysplasia\Focal facial dermal dysplasia type II
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Focal facial dermal dysplasia type II
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Focal facial dermal dysplasia type II
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Focal facial dermal dysplasia type II
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type II
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Focal facial dermal dysplasia type II
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Focal facial dermal dysplasia type II
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type II
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type II
\Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type II
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type II
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type II
\Disease\Developmental disorder\Developmental hereditary disorder\Focal facial dermal dysplasia type II
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type II
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type II

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2020. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3787379013 Focal facial dermal dysplasia 2 Brauer Setleis type en Synonym Active Only initial character case insensitive SNOMED CT core module

3787380011 Focal facial dermal dysplasia type II en Synonym Active Only initial character case insensitive SNOMED CT core module

3787381010 Focal facial dermal dysplasia type II (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3787397017 FFDD type 2 - focal facial dermal dysplasia type 2 en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Focal facial dermal dysplasia type II	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Focal facial dermal dysplasia type II	Finding site	Ectoderm structure	true	Inferred relationship	Existential restriction modifier	1
Focal facial dermal dysplasia type II	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
Focal facial dermal dysplasia type II	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	2
Focal facial dermal dysplasia type II	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Focal facial dermal dysplasia type II	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Focal facial dermal dysplasia type II	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Focal facial dermal dysplasia type II	Is a	Focal facial dermal dysplasia	true	Inferred relationship	Existential restriction modifier
Focal facial dermal dysplasia type II	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Focal facial dermal dysplasia type II	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Focal facial dermal dysplasia type II	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Focal facial dermal dysplasia type II	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3787379013	Focal facial dermal dysplasia 2 Brauer Setleis type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3787380011	Focal facial dermal dysplasia type II	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3787381010	Focal facial dermal dysplasia type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3787397017	FFDD type 2 - focal facial dermal dysplasia type 2	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module