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 anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type II
• \Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type II
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type II

Status: current, Primitive. Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3787379013	Focal facial dermal dysplasia 2 Brauer Setleis type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3787380011	Focal facial dermal dysplasia type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3787381010	Focal facial dermal dysplasia type II (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3787397017	FFDD type 2 - focal facial dermal dysplasia type 2	en	Synonym	Active	Case sensitive	SNOMED CT core
3787383013	Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia with characteristics of congenital bitemporal scar-like depressions with additional facial dysmorphic features. Cardiac and genital or urinary abnormalities have been rarely noted. Developmental delay, severe intellectual disability, behavioural problems, and learning difficulties may be observed. Transmitted in an autosomal dominant manner with variable expressivity and incomplete penetrance.	en	Definition	Active	Case sensitive	SNOMED CT core
3787384019	Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia with characteristics of congenital bitemporal scar-like depressions with additional facial dysmorphic features. Cardiac and genital or urinary abnormalities have been rarely noted. Developmental delay, severe intellectual disability, behavioral problems, and learning difficulties may be observed. Transmitted in an autosomal dominant manner with variable expressivity and incomplete penetrance.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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