59451000: Cutis laxa, autosomal recessive (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\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\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 of skin\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 of skin\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive
\Integumentary system finding\Skin finding\Disorder of skin\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\Inherited disorder of connective tissue\Inherited cutis laxa\Cutis laxa, autosomal recessive
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\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 of skin\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive
\Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Inherited cutis laxa\Cutis laxa, autosomal recessive
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive
\Disease\Disorder of connective tissue\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\Congenital disease\Congenital connective tissue disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\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, Defined. 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 Case insensitive SNOMED CT core
98752012 Cutis laxa, autosomal recessive en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cutis laxa, autosomal recessive	Pathological process	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
Cutis laxa, autosomal recessive	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
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	Is a	Inherited disorder of connective tissue	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	Congenital anomaly	false	Inferred relationship	Some	1
Cutis laxa, autosomal recessive	Occurrence	Congenital	false	Inferred relationship	Some	2
Cutis laxa, autosomal recessive	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Cutis laxa, autosomal recessive	Finding site	Skin structure	true	Inferred relationship	Some	2
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	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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
RIN2 syndrome	Is a	True	Cutis laxa, autosomal recessive	Inferred relationship	Some
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Is a	True	Cutis laxa, autosomal recessive	Inferred relationship	Some
Cutis laxa-corneal clouding-oligophrenia syndrome	Is a	True	Cutis laxa, autosomal recessive	Inferred relationship	Some
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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

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