59451000: Cutis laxa, autosomal recessive (disorder)

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Collagen and elastic tissue disorders affecting skin\cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)

\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Collagen and elastic tissue disorders affecting skin\cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Collagen and elastic tissue disorders affecting skin\cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Collagen and elastic tissue disorders affecting skin\cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Collagen and elastic tissue disorders affecting skin\cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)
\Disease\Genetic disease\maladie héréditaire\Connective tissue hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cutis laxa, autosomal recessive (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Collagen and elastic tissue disorders affecting skin\cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)
\Disease\affection du tissu conjonctif\Connective tissue hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)
\Disease\affection du tissu conjonctif\affection congénitale du tissu conjonctif\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)
\Disease\affection du tissu conjonctif\Metabolic disease of collagen\cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)
\Disease\trouble métabolique\Metabolic disease of collagen\cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)
\Disease\Congenital disease\affection congénitale du tissu conjonctif\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Collagen and elastic tissue disorders affecting skin\cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

798295015 Cutis laxa, autosomal recessive (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

98752012 Cutis laxa, autosomal recessive en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cutis laxa, autosomal recessive (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cutis laxa, autosomal recessive (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some	1
Cutis laxa, autosomal recessive (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Cutis laxa, autosomal recessive (disorder)	localisation d'une constatation (attribut)	Connective tissue structure	true	Inferred relationship	Some	1
Cutis laxa, autosomal recessive (disorder)	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Cutis laxa, autosomal recessive (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cutis laxa, autosomal recessive (disorder)	est un(e) (attribut)	Inherited cutis laxa	true	Inferred relationship	Some
Cutis laxa, autosomal recessive (disorder)	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Cutis laxa, autosomal recessive (disorder)	est un(e) (attribut)	Hereditary disorder of the integument	false	Inferred relationship	Some
Cutis laxa, autosomal recessive (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Cutis laxa, autosomal recessive (disorder)	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Cutis laxa, autosomal recessive (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Cutis laxa, autosomal recessive (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
Cutis laxa, autosomal recessive (disorder)	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	2
Cutis laxa, autosomal recessive (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some
Cutis laxa, autosomal recessive (disorder)	localisation d'une constatation (attribut)	Connective tissue structure	false	Inferred relationship	Some
Cutis laxa, autosomal recessive (disorder)	localisation d'une constatation (attribut)	appareil locomoteur	false	Inferred relationship	Some
Cutis laxa, autosomal recessive (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Cutis laxa, autosomal recessive (disorder)	localisation d'une constatation (attribut)	Connective tissue	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)	est un(e) (attribut)	True	Cutis laxa, autosomal recessive (disorder)	Inferred relationship	Some
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder)	est un(e) (attribut)	True	Cutis laxa, autosomal recessive (disorder)	Inferred relationship	Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder)	est un(e) (attribut)	True	Cutis laxa, autosomal recessive (disorder)	Inferred relationship	Some
Cutis laxa, recessive, type I	est un(e) (attribut)	True	Cutis laxa, autosomal recessive (disorder)	Inferred relationship	Some
Cutis laxa, recessive, type II	est un(e) (attribut)	True	Cutis laxa, autosomal recessive (disorder)	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
798295015	Cutis laxa, autosomal recessive (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
98752012	Cutis laxa, autosomal recessive	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core