254221009: Neonatal cutis laxa with marfanoid phenotype (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding (finding)\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Neonatal cutis laxa with marfanoid phenotype (disorder)

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

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

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

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

Descriptions:

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

1496421000005115 Neonatal cutis laxa med marfanoid fænotype da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neonatal cutis laxa with marfanoid phenotype (disorder)	Is a	Inherited cutis laxa	true	Inferred relationship	Some
Neonatal cutis laxa with marfanoid phenotype (disorder)	Finding site	Connective tissue structure	false	Inferred relationship	Some
Neonatal cutis laxa with marfanoid phenotype (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Neonatal cutis laxa with marfanoid phenotype (disorder)	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some
Neonatal cutis laxa with marfanoid phenotype (disorder)	Finding site	Connective tissue (substance)	false	Inferred relationship	Some
Neonatal cutis laxa with marfanoid phenotype (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Neonatal cutis laxa with marfanoid phenotype (disorder)	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Neonatal cutis laxa with marfanoid phenotype (disorder)	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Neonatal cutis laxa with marfanoid phenotype (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Neonatal cutis laxa with marfanoid phenotype (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Neonatal cutis laxa with marfanoid phenotype (disorder)	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Neonatal cutis laxa with marfanoid phenotype (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	2
Neonatal cutis laxa with marfanoid phenotype (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Neonatal cutis laxa with marfanoid phenotype (disorder)	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Neonatal cutis laxa with marfanoid phenotype (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Neonatal cutis laxa with marfanoid phenotype (disorder)	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

Back to Start

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
1496421000005115	Neonatal cutis laxa med marfanoid fænotype	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)