59399004: Cutis laxa, x-linked (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, x-linked

\Congenital anomaly of skin\Cutis laxa, x-linked

\General finding of soft tissue\Skin finding\Disorder of skin\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, x-linked
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Cutis laxa, x-linked
\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, x-linked
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Cutis laxa, x-linked

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, x-linked
\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, x-linked
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Cutis laxa, x-linked
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Cutis laxa, x-linked
\Integumentary system finding\Skin finding\Disorder of skin\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, x-linked
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Cutis laxa, x-linked

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Cutis laxa, x-linked
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Cutis laxa, x-linked
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Cutis laxa, x-linked
\Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cutis laxa, x-linked
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Cutis laxa, x-linked
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Cutis laxa, x-linked
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Cutis laxa, x-linked
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Cutis laxa, x-linked
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Cutis laxa, x-linked

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cutis laxa, x-linked
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, x-linked
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, x-linked
\Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Inherited cutis laxa\Cutis laxa, x-linked
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Cutis laxa, x-linked
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cutis laxa, x-linked
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, x-linked
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, x-linked
\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, x-linked
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Cutis laxa, x-linked
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Cutis laxa, x-linked
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Cutis laxa, x-linked
\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cutis laxa, x-linked
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Cutis laxa, x-linked
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Cutis laxa, x-linked
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Cutis laxa, x-linked
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Cutis laxa, x-linked
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Cutis laxa, x-linked
\Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Inherited cutis laxa\Cutis laxa, x-linked
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Inherited cutis laxa\Cutis laxa, x-linked
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Cutis laxa, x-linked
\Disease\Disorder of connective tissue\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa\Cutis laxa, x-linked
\Disease\Metabolic disease\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa\Cutis laxa, x-linked
\Disease\Metabolic disease\Metabolic bone disease\Cutis laxa, x-linked
\Disease\Metabolic disease\Disorder of mineral metabolism\Copper metabolism disorder\Cutis laxa, x-linked
\Disease\Congenital disease\Congenital connective tissue disorder\Inherited cutis laxa\Cutis laxa, x-linked
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Cutis laxa, x-linked
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Cutis laxa, x-linked
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Cutis laxa, x-linked
\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, x-linked
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Cutis laxa, x-linked
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Cutis laxa, x-linked
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, x-linked
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Cutis laxa, x-linked
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Cutis laxa, x-linked
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Cutis laxa, x-linked

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1719831000168118 Ehlers-Danlos syndrome, intellectual disability type en Synonym Active Case sensitive SNOMED Clinical Terms Australian extension

498420012 Occipital horn syndrome en Synonym Active Case insensitive SNOMED CT core

498422016 Ehlers-Danlos syndrome type 9 X-linked en Synonym Active Case sensitive SNOMED CT core

798236017 Cutis laxa, x-linked (disorder) en Fully specified name Active Case insensitive SNOMED CT core

98662010 Cutis laxa, x-linked en Synonym Active Case insensitive SNOMED CT core

98663017 Ehlers-Danlos syndrome, mental retardation type en Synonym Active Case sensitive SNOMED CT core

98664011 Ehlers-Danlos syndrome, occipital horn type en Synonym Active Case sensitive SNOMED CT core

98665012 Ehlers-Danlos syndrome, x-linked skeletal type en Synonym Active Case sensitive SNOMED CT core

98666013 Ehlers-Danlos syndrome, type 9 en Synonym Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cutis laxa, x-linked	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Cutis laxa, x-linked	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Cutis laxa, x-linked	Occurrence	Congenital	true	Inferred relationship	Some	1
Cutis laxa, x-linked	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Cutis laxa, x-linked	Associated morphology	Dysplasia	false	Inferred relationship	Some	2
Cutis laxa, x-linked	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Cutis laxa, x-linked	Finding site	Connective tissue structure	false	Inferred relationship	Some	1
Cutis laxa, x-linked	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Cutis laxa, x-linked	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Cutis laxa, x-linked	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Cutis laxa, x-linked	Finding site	Connective tissue structure	true	Inferred relationship	Some	2
Cutis laxa, x-linked	Is a	Musculoskeletal and connective tissue disorder	true	Inferred relationship	Some
Cutis laxa, x-linked	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Cutis laxa, x-linked	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Cutis laxa, x-linked	Is a	Metabolic bone disease	true	Inferred relationship	Some
Cutis laxa, x-linked	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Cutis laxa, x-linked	Is a	Congenital anomaly of skin	true	Inferred relationship	Some
Cutis laxa, x-linked	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Cutis laxa, x-linked	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Cutis laxa, x-linked	Is a	Ehlers-Danlos syndrome	false	Inferred relationship	Some
Cutis laxa, x-linked	Is a	Inherited cutis laxa	true	Inferred relationship	Some
Cutis laxa, x-linked	Is a	Ehlers-Danlos syndrome	false	Inferred relationship	Some
Cutis laxa, x-linked	Is a	Copper metabolism disorder	true	Inferred relationship	Some
Cutis laxa, x-linked	Finding site	Bone structure	false	Inferred relationship	Some	1
Cutis laxa, x-linked	Finding site	Skin structure	true	Inferred relationship	Some	1
Cutis laxa, x-linked	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Cutis laxa, x-linked	Occurrence	Congenital	true	Inferred relationship	Some	2
Cutis laxa, x-linked	Finding site	Skin structure	false	Inferred relationship	Some	2
Cutis laxa, x-linked	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Cutis laxa, x-linked	Finding site	Bone structure	false	Inferred relationship	Some	2
Cutis laxa, x-linked	Occurrence	Congenital	true	Inferred relationship	Some	3
Cutis laxa, x-linked	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Cutis laxa, x-linked	Finding site	Skin structure	false	Inferred relationship	Some	3
Cutis laxa, x-linked	Finding site	Bone structure	true	Inferred relationship	Some	3
Cutis laxa, x-linked	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Cutis laxa, x-linked	Finding site	Connective tissue	false	Inferred relationship	Some
Cutis laxa, x-linked	Finding site	Skin structure	false	Inferred relationship	Some	1
Cutis laxa, x-linked	Finding site	Bone structure	false	Inferred relationship	Some	1
Cutis laxa, x-linked	Occurrence	Congenital	false	Inferred relationship	Some
Cutis laxa, x-linked	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Cutis laxa, x-linked	Finding site	Connective tissue structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1719831000168118	Ehlers-Danlos syndrome, intellectual disability type	en	Synonym	Active	Case sensitive	SNOMED Clinical Terms Australian extension
498420012	Occipital horn syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
498422016	Ehlers-Danlos syndrome type 9 X-linked	en	Synonym	Active	Case sensitive	SNOMED CT core
798236017	Cutis laxa, x-linked (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
98662010	Cutis laxa, x-linked	en	Synonym	Active	Case insensitive	SNOMED CT core
98663017	Ehlers-Danlos syndrome, mental retardation type	en	Synonym	Active	Case sensitive	SNOMED CT core
98664011	Ehlers-Danlos syndrome, occipital horn type	en	Synonym	Active	Case sensitive	SNOMED CT core
98665012	Ehlers-Danlos syndrome, x-linked skeletal type	en	Synonym	Active	Case sensitive	SNOMED CT core
98666013	Ehlers-Danlos syndrome, type 9	en	Synonym	Active	Case sensitive	SNOMED CT core