789157007: Focal facial dermal dysplasia type I (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 I
• \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 I
• \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 I
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Focal facial dermal dysplasia type I
• \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 I
• \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 I
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type I
• \Disease\Genetic disease\Focal facial dermal dysplasia\Focal facial dermal dysplasia type I
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Focal facial dermal dysplasia type I
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Focal facial dermal dysplasia type I
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Focal facial dermal dysplasia type I
• \Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type I
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Focal facial dermal dysplasia type I
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Focal facial dermal dysplasia type I
• \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 I
• \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 I
• \Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type I
• \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 I
• \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 I
• \Disease\Developmental disorder\Developmental hereditary disorder\Focal facial dermal dysplasia type I
• \Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type I
• \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 I

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3787366016	Focal facial dermal dysplasia type I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3787367013	Brauer syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3787368015	Focal facial dermal dysplasia type I (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3787369011	Focal facial dermal dysplasia 1 Brauer type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3787370012	Bitemporal aplasia cutis congenita	en	Synonym	Active	Case insensitive	SNOMED CT core
3787374015	FFDD type 1 - focal facial dermal dysplasia type 1	en	Synonym	Active	Case sensitive	SNOMED CT core
3787373014	Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia with characteristics of congenital bitemporal cutis aplasia. The bitemporal rarely unilateral hypoplastic scar-like lesions in FFDD, resembling forceps marks, are usually the only manifestations of FFDD1. Most patients usually have normal intelligence. Transmitted in an autosomal dominant manner with full 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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