111388003: Cutis laxa, autosomal dominant (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal dominant

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal dominant
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal dominant

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa (disorder)\Cutis laxa, autosomal dominant
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal dominant
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal dominant

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa (disorder)\Cutis laxa, autosomal dominant
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited cutis laxa (disorder)\Cutis laxa, autosomal dominant
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Inherited cutis laxa (disorder)\Cutis laxa, autosomal dominant
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cutis laxa, autosomal dominant
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa (disorder)\Cutis laxa, autosomal dominant
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa (disorder)\Cutis laxa, autosomal dominant
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal dominant
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Inherited cutis laxa (disorder)\Cutis laxa, autosomal dominant
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Inherited cutis laxa (disorder)\Cutis laxa, autosomal dominant
\Disease\Disorder of connective tissue (disorder)\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal dominant
\Disease\Metabolic disease\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal dominant
\Disease\Congenital disease (disorder)\Congenital connective tissue disorder\Inherited cutis laxa (disorder)\Cutis laxa, autosomal dominant
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal dominant
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited cutis laxa (disorder)\Cutis laxa, autosomal dominant

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cutis laxa, autosomal dominant	Is a	Inherited cutis laxa (disorder)	true	Inferred relationship	Some
Cutis laxa, autosomal dominant	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Cutis laxa, autosomal dominant	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some
Cutis laxa, autosomal dominant	Finding site	Connective tissue structure	false	Inferred relationship	Some
Cutis laxa, autosomal dominant	Occurrence	Congenital	false	Inferred relationship	Some
Cutis laxa, autosomal dominant	Finding site	Skin structure	false	Inferred relationship	Some	1
Cutis laxa, autosomal dominant	Finding site	Connective tissue	false	Inferred relationship	Some
Cutis laxa, autosomal dominant	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Cutis laxa, autosomal dominant	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Cutis laxa, autosomal dominant	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Cutis laxa, autosomal dominant	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Cutis laxa, autosomal dominant	Finding site	Skin structure	false	Inferred relationship	Some	1
Cutis laxa, autosomal dominant	Occurrence	Congenital	false	Inferred relationship	Some	2
Cutis laxa, autosomal dominant	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Cutis laxa, autosomal dominant	Finding site	Skin structure	true	Inferred relationship	Some	2
Cutis laxa, autosomal dominant	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
Cutis laxa, autosomal dominant	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cutis laxa, autosomal dominant	Occurrence	Congenital	true	Inferred relationship	Some	1
Cutis laxa, autosomal dominant	Finding site	Connective tissue structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
178628015	Cutis laxa, autosomal dominant	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
630983013	Cutis laxa, autosomal dominant (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
837341000052113	autosomal dominant cutis laxa	sv	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)
3686321000052112	autosomalt dominant cutis laxa	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)