789161001: Focal facial dermal dysplasia type IV (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 IV

\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 IV
\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 IV

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Focal facial dermal dysplasia type IV
\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 IV
\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 IV
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type IV

\Disease\Genetic disease\Focal facial dermal dysplasia\Focal facial dermal dysplasia type IV
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Focal facial dermal dysplasia type IV
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Focal facial dermal dysplasia type IV
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Focal facial dermal dysplasia type IV
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type IV
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Focal facial dermal dysplasia type IV
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Focal facial dermal dysplasia type IV
\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 IV
\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 IV
\Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type IV
\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 IV
\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 IV
\Disease\Developmental disorder\Developmental hereditary disorder\Focal facial dermal dysplasia type IV
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type IV
\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 IV

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

3787392011 FFDD type 4 - focal facial dermal dysplasia type 4 en Synonym Active Entire term case sensitive SNOMED CT core module

3787393018 Focal facial preauricular dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

3787394012 Focal facial dermal dysplasia type IV (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3787395013 Focal facial dermal dysplasia type IV en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Focal facial dermal dysplasia type IV	Finding site	Ectoderm structure	true	Inferred relationship	Existential restriction modifier	1
Focal facial dermal dysplasia type IV	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Focal facial dermal dysplasia type IV	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Focal facial dermal dysplasia type IV	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Focal facial dermal dysplasia type IV	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Focal facial dermal dysplasia type IV	Is a	Focal facial dermal dysplasia	true	Inferred relationship	Existential restriction modifier
Focal facial dermal dysplasia type IV	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Focal facial dermal dysplasia type IV	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Focal facial dermal dysplasia type IV	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Focal facial dermal dysplasia type IV	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
Focal facial dermal dysplasia type IV	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	2
Focal facial dermal dysplasia type IV	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
3787392011	FFDD type 4 - focal facial dermal dysplasia type 4	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3787393018	Focal facial preauricular dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3787394012	Focal facial dermal dysplasia type IV (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3787395013	Focal facial dermal dysplasia type IV	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module