789161001: focale faciale dermale dysplasie type IV (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type IV (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type IV (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type IV (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Focal facial dermal dysplasia type IV (disorder)
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type IV (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type IV (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type IV (disorder)
• \Disease\Genetic disease\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type IV (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Focal facial dermal dysplasia type IV (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Focal facial dermal dysplasia type IV (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Focal facial dermal dysplasia type IV (disorder)
• \Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type IV (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type IV (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type IV (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type IV (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type IV (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Focal facial dermal dysplasia type IV (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Focal facial dermal dysplasia type IV (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type IV (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type IV (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type IV (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Focal facial dermal dysplasia type IV (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type IV (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type IV (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Focal facial dermal dysplasia (disorder)\Focal facial dermal dysplasia type IV (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3787393018	Focal facial preauricular dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3787394012	Focal facial dermal dysplasia type IV (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3787395013	Focal facial dermal dysplasia type IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
11571951000146116	focale faciale dermale dysplasie type IV	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11571971000146112	focale faciale dermale dysplasie type IV (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11588121000146110	FFDD type 4	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13299131000146119	focale faciale pre-auriculaire dysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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