59451000: Cutis laxa, autosomal recessive (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\Cutis laxa, autosomal recessive

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cutis laxa, autosomal recessive
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital connective tissue disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive
\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\Cutis laxa, autosomal recessive
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive
\Disease\Disorder of connective tissue (disorder)\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive
\Disease\Metabolic disease\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive
\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\Cutis laxa, autosomal recessive
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive

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

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

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

4584651000241113 cutis laxa, forme autosomique récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cutis laxa, recessive, type I	Is a	True	Cutis laxa, autosomal recessive	Inferred relationship	Some
Cutis laxa, recessive, type II	Is a	True	Cutis laxa, autosomal recessive	Inferred relationship	Some
RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.	Is a	True	Cutis laxa, autosomal recessive	Inferred relationship	Some
A rare, genetic, dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe, usually early-onset, pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (i.e. bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only).	Is a	True	Cutis laxa, autosomal recessive	Inferred relationship	Some
De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.	Is a	True	Cutis laxa, autosomal recessive	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
98752012	Cutis laxa, autosomal recessive	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
798295015	Cutis laxa, autosomal recessive (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4584651000241113	cutis laxa, forme autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module