254778000: Congenital livedo reticularis (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding (finding)\Disorder of skin (disorder)\Vascular disease of the skin\Livedo reticularis (disorder)\Congenital livedo reticularis

\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Vascular disease of the skin\Livedo reticularis (disorder)\Congenital livedo reticularis
\General finding of soft tissue\Blood vessel finding\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital livedo reticularis
\General finding of soft tissue\Blood vessel finding\Disorder of blood vessel (disorder)\Vascular disease of the skin\Livedo reticularis (disorder)\Congenital livedo reticularis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Vascular disease of the skin\Livedo reticularis (disorder)\Congenital livedo reticularis
\General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital livedo reticularis
\General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel (disorder)\Vascular disease of the skin\Livedo reticularis (disorder)\Congenital livedo reticularis

\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital livedo reticularis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Vascular disease of the skin\Livedo reticularis (disorder)\Congenital livedo reticularis
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Vascular disease of the skin\Livedo reticularis (disorder)\Congenital livedo reticularis

\Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital livedo reticularis
\Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital livedo reticularis
\Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Disorder of blood vessel (disorder)\Vascular disease of the skin\Livedo reticularis (disorder)\Congenital livedo reticularis
\Cardiovascular finding (finding)\Blood vessel finding\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital livedo reticularis
\Cardiovascular finding (finding)\Blood vessel finding\Disorder of blood vessel (disorder)\Vascular disease of the skin\Livedo reticularis (disorder)\Congenital livedo reticularis

\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital livedo reticularis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital livedo reticularis
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital livedo reticularis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Vascular disease of the skin\Livedo reticularis (disorder)\Congenital livedo reticularis
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital livedo reticularis
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital livedo reticularis
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Disorder of blood vessel (disorder)\Vascular disease of the skin\Livedo reticularis (disorder)\Congenital livedo reticularis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Vascular disease of the skin\Livedo reticularis (disorder)\Congenital livedo reticularis
\Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital livedo reticularis
\Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Vascular disease of the skin\Livedo reticularis (disorder)\Congenital livedo reticularis

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital livedo reticularis	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Congenital livedo reticularis	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital livedo reticularis	Occurrence	Congenital	false	Inferred relationship	Some
Congenital livedo reticularis	Associated morphology	kongenit anomali	false	Inferred relationship	Some
Congenital livedo reticularis	Is a	Reticulate vascular nevus	false	Inferred relationship	Some
Congenital livedo reticularis	Finding site	Blood vessel structure (body structure)	false	Inferred relationship	Some	2
Congenital livedo reticularis	Finding site	Blood vessel structure (body structure)	false	Inferred relationship	Some	2
Congenital livedo reticularis	Associated morphology	Vascular nevus	false	Inferred relationship	Some	2
Congenital livedo reticularis	Associated morphology	kongenit vaskulær anomali	false	Inferred relationship	Some	1
Congenital livedo reticularis	Finding site	Blood vessel structure (body structure)	false	Inferred relationship	Some	2
Congenital livedo reticularis	Finding site	Blood vessel structure (body structure)	false	Inferred relationship	Some	3
Congenital livedo reticularis	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital livedo reticularis	Associated morphology	Kongenit malformation	false	Inferred relationship	Some	3
Congenital livedo reticularis	Finding site	Blood vessel structure (body structure)	false	Inferred relationship	Some	2
Congenital livedo reticularis	Finding site	Blood vessel structure (body structure)	false	Inferred relationship	Some	3
Congenital livedo reticularis	Finding site	Blood vessel structure (body structure)	false	Inferred relationship	Some	2
Congenital livedo reticularis	Finding site	Blood vessel structure (body structure)	false	Inferred relationship	Some	3
Congenital livedo reticularis	Finding site	Blood vessel structure (body structure)	false	Inferred relationship	Some	2
Congenital livedo reticularis	Finding site	Blood vessel structure (body structure)	false	Inferred relationship	Some	3
Congenital livedo reticularis	Finding site	Blood vessel structure (body structure)	false	Inferred relationship	Some	2
Congenital livedo reticularis	Finding site	Blood vessel structure (body structure)	false	Inferred relationship	Some	3
Congenital livedo reticularis	Finding site	Blood vessel structure (body structure)	false	Inferred relationship	Some	2
Congenital livedo reticularis	Finding site	Blood vessel structure (body structure)	false	Inferred relationship	Some	3
Congenital livedo reticularis	Occurrence	Congenital	false	Inferred relationship	Some	4
Congenital livedo reticularis	Associated morphology	dysgenese	false	Inferred relationship	Some	4
Congenital livedo reticularis	Occurrence	Congenital	false	Inferred relationship	Some	5
Congenital livedo reticularis	Associated morphology	dysgenese	false	Inferred relationship	Some	5
Congenital livedo reticularis	Finding site	Blood vessel structure (body structure)	false	Inferred relationship	Some	4
Congenital livedo reticularis	Occurrence	Congenital	false	Inferred relationship	Some	6
Congenital livedo reticularis	Finding site	Blood vessel structure (body structure)	false	Inferred relationship	Some	6
Congenital livedo reticularis	Associated morphology	Vascular nevus	false	Inferred relationship	Some	6
Congenital livedo reticularis	Finding site	Skin structure	false	Inferred relationship	Some	5
Congenital livedo reticularis	Associated morphology	Vascular nevus	false	Inferred relationship	Some	1
Congenital livedo reticularis	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital livedo reticularis	Finding site	Blood vessel structure of skin (body structure)	true	Inferred relationship	Some	1
Congenital livedo reticularis	Is a	Livedo reticularis (disorder)	true	Inferred relationship	Some
Congenital livedo reticularis	Is a	Congenital vascular disorder (disorder)	true	Inferred relationship	Some
Congenital livedo reticularis	Is a	Disorder involving the integument of fetus OR newborn	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare genetic disease with characteristics of facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naive T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4. Patients do not exhibit increased susceptibility to cancer. There is evidence the disease is caused by homozygous mutation in the POLE gene on chromosome 12q24.	Is a	True	Congenital livedo reticularis	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
379507012	Cutis marmorata telangiectatica congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
379508019	CMTC - Cutis marmorata telangiectatica congenita	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
379509010	Cutis marmorata telangiectasia congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
379510017	Van Lohuizen's syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
379511018	Congenital livedo reticularis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645718017	Congenital livedo reticularis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1230831000005110	Kongenit cutis marmorata	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)