789160000: Focal facial dermal dysplasia type III (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 III
• \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 III
• \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 III
• \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 III
• \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 III
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type III
• \Disease\Genetic disease\Focal facial dermal dysplasia\Focal facial dermal dysplasia type III
• \Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type III
• \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 III
• \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 III
• \Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type III
• \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 III
• \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 III
• \Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Focal facial dermal dysplasia\Focal facial dermal dysplasia type III
• \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 III

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3787385018	Setleis syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3787386017	Focal facial dermal dysplasia 3 Setleis type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3787387014	Focal facial dermal dysplasia type III	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3787388016	Focal facial dermal dysplasia type III (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3787389012	FFDD type 3 - focal facial dermal dysplasia type 3	en	Synonym	Active	Case sensitive	SNOMED CT core
3787390015	Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial dermal dysplasia with primary characteristics of congenital bitemporal scar-like depressions and a typical but variable facial dysmorphism. Caused by homozygous mutations in the TWIST2 gene, which encodes a bHLH transcription factor involved in dermal facial development in mammals. However, the majority of unrelated FFDD3 patients evaluated have had normal TWIST2 sequences, indicating the molecular genetic heterogeneity of the disorder. Many cases are sporadic. Inheritance is autosomal recessive for patients with TWIST2 mutations.	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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