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 anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type IV
• \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 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 anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type IV
• \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 IV

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3787392011	FFDD type 4 - focal facial dermal dysplasia type 4	en	Synonym	Active	Case sensitive	SNOMED CT core
3787393018	Focal facial preauricular dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3787394012	Focal facial dermal dysplasia type IV (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3787395013	Focal facial dermal dysplasia type IV	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3787396014	Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia with characteristics of congenital isolated preauricular and/or cheek blister scar-like lesions. Affected FFDD4 patients typically do not present with extra-cutaneous manifestations, although in a small number of cases, a hair collar sign (circumscription of the cutaneous lesion with terminal hairs), polyps on the buccal mucosa with a similar distribution pattern, and developmental delay have been reported. An autosomal recessive trait.	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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