721904001: Rombo syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Hair finding\Disorder of hair\Disorder of hair growth (disorder)\Hypotrichosis (disorder)\Rombo syndrome
• \Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Rombo syndrome
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth (disorder)\Hypotrichosis (disorder)\Rombo syndrome
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth (disorder)\Hypotrichosis (disorder)\Rombo syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Rombo syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth (disorder)\Hypotrichosis (disorder)\Rombo syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Rombo syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth (disorder)\Hypotrichosis (disorder)\Rombo syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Rombo syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Rombo syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth (disorder)\Hypotrichosis (disorder)\Rombo syndrome
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth (disorder)\Hypotrichosis (disorder)\Rombo syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Rombo syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth (disorder)\Hypotrichosis (disorder)\Rombo syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Rombo syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Rombo syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Rombo syndrome
• \Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Rombo syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Rombo syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Rombo syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Rombo syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth (disorder)\Hypotrichosis (disorder)\Rombo syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Rombo syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth (disorder)\Hypotrichosis (disorder)\Rombo syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3326812012	Rombo syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326813019	Rombo syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402742013	Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402743015	Rombo syndrome is characterised by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326812012	Rombo syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326813019	Rombo syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326814013	Rombo syndrome has characteristics of vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, and peripheral vasodilation with cyanosis and basal cell carcinomas. It has been described in four generations of one family and in two additional sporadic cases. The skin lesions become visible between 7 and 10 years of age and are most pronounced on the face. Basal cell carcinomas are frequent and develop at around 35 years of age.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402742013	Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402743015	Rombo syndrome is characterised by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3420561001000114	Rombo-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
892991000172119	syndrome de Rombo	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
892991000172119	syndrome de Rombo	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3420561001000114	Rombo-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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