254221009: Neonatal cutis laxa with marfanoid phenotype (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 (disorder)\Cutis laxa\Inherited cutis laxa\Neonatal cutis laxa with marfanoid phenotype

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Inherited cutis laxa\Neonatal cutis laxa with marfanoid phenotype
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited cutis laxa\Neonatal cutis laxa with marfanoid phenotype
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder\Inherited cutis laxa\Neonatal cutis laxa with marfanoid phenotype
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital connective tissue disorder\Inherited cutis laxa\Neonatal cutis laxa with marfanoid phenotype
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Inherited cutis laxa\Neonatal cutis laxa with marfanoid phenotype
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Inherited cutis laxa\Neonatal cutis laxa with marfanoid phenotype
\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 (disorder)\Cutis laxa\Inherited cutis laxa\Neonatal cutis laxa with marfanoid phenotype
\Disease\Disorder of connective tissue\Connective tissue hereditary disorder\Inherited cutis laxa\Neonatal cutis laxa with marfanoid phenotype
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Inherited cutis laxa\Neonatal cutis laxa with marfanoid phenotype
\Disease\Disorder of connective tissue\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa\Neonatal cutis laxa with marfanoid phenotype
\Disease\Metabolic disease\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa\Neonatal cutis laxa with marfanoid phenotype
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin (disorder)\Cutis laxa\Inherited cutis laxa\Neonatal cutis laxa with marfanoid phenotype
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Inherited cutis laxa\Neonatal cutis laxa with marfanoid phenotype

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neonatal cutis laxa with marfanoid phenotype	Is a	Inherited cutis laxa	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Neonatal cutis laxa with marfanoid phenotype	Finding site	Connective tissue structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Neonatal cutis laxa with marfanoid phenotype	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Neonatal cutis laxa with marfanoid phenotype	Finding site	Structure of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Neonatal cutis laxa with marfanoid phenotype	Finding site	Connective tissue	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Neonatal cutis laxa with marfanoid phenotype	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neonatal cutis laxa with marfanoid phenotype	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neonatal cutis laxa with marfanoid phenotype	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neonatal cutis laxa with marfanoid phenotype	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neonatal cutis laxa with marfanoid phenotype	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Neonatal cutis laxa with marfanoid phenotype	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Neonatal cutis laxa with marfanoid phenotype	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Neonatal cutis laxa with marfanoid phenotype	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neonatal cutis laxa with marfanoid phenotype	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neonatal cutis laxa with marfanoid phenotype	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neonatal cutis laxa with marfanoid phenotype	Finding site	Connective tissue structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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
378447010	Neonatal cutis laxa with marfanoid phenotype	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645082016	Neonatal cutis laxa with marfanoid phenotype (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378447010	Neonatal cutis laxa with marfanoid phenotype	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378447010	Neonatal cutis laxa with marfanoid phenotype	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645082016	Neonatal cutis laxa with marfanoid phenotype (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
645082016	Neonatal cutis laxa with marfanoid phenotype (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3429781001000117	Cutix laxa-mafanoides Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5082921000241114	cutis laxa néonatal avec phénotype marfanoide	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5082921000241114	cutis laxa néonatal avec phénotype marfanoide	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3429781001000117	Cutix laxa-mafanoides Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module