254220005: hereditaire cutis laxa (aandoening)

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)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa (disorder)
\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)

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited cutis laxa (disorder)
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Inherited cutis laxa (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital connective tissue disorder\Inherited cutis laxa (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa (disorder)
\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)
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Inherited cutis laxa (disorder)
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Inherited cutis laxa (disorder)
\Disease\Disorder of connective tissue (disorder)\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa (disorder)
\Disease\Metabolic disease\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa (disorder)
\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)
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited cutis laxa (disorder)

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
Inherited cutis laxa (disorder)	Is a	Cutis laxa	true	Inferred relationship	Some
Inherited cutis laxa (disorder)	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Inherited cutis laxa (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Inherited cutis laxa (disorder)	Finding site	Connective tissue	false	Inferred relationship	Some
Inherited cutis laxa (disorder)	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some
Inherited cutis laxa (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Inherited cutis laxa (disorder)	Finding site	Connective tissue structure	false	Inferred relationship	Some
Inherited cutis laxa (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Inherited cutis laxa (disorder)	Is a	Congenital connective tissue disorder	true	Inferred relationship	Some
Inherited cutis laxa (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Inherited cutis laxa (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Inherited cutis laxa (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Inherited cutis laxa (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Inherited cutis laxa (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	2
Inherited cutis laxa (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
Inherited cutis laxa (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Inherited cutis laxa (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Inherited cutis laxa (disorder)	Is a	Connective tissue hereditary disorder (disorder)	true	Inferred relationship	Some
Inherited cutis laxa (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Inherited cutis laxa (disorder)	Is a	Developmental disorder	false	Inferred relationship	Some
Inherited cutis laxa (disorder)	Finding site	Connective tissue structure	true	Inferred relationship	Some	1
Inherited cutis laxa (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Inherited cutis laxa (disorder)	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cutis laxa, autosomal dominant (disorder)	Is a	True	Inherited cutis laxa (disorder)	Inferred relationship	Some
Neonatal cutis laxa with marfanoid phenotype	Is a	True	Inherited cutis laxa (disorder)	Inferred relationship	Some
Cutis laxa, x-linked	Is a	True	Inherited cutis laxa (disorder)	Inferred relationship	Some
Cutis laxa, autosomal recessive	Is a	True	Inherited cutis laxa (disorder)	Inferred relationship	Some
Localized congenital cutis laxa (disorder)	Is a	True	Inherited cutis laxa (disorder)	Inferred relationship	Some
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)	Is a	False	Inherited cutis laxa (disorder)	Inferred relationship	Some
SCARF syndrome	Is a	True	Inherited cutis laxa (disorder)	Inferred relationship	Some

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
378446018	Inherited cutis laxa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645081011	Inherited cutis laxa (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6874851000146112	hereditaire cutis laxa (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6874861000146110	hereditaire cutis laxa	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9106661000146113	erfelijke cutis laxa	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)