403765001: Port-wine stain in Rubinstein-Taybi syndrome (disorder)

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

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)\Rubinstein-Taybi syndrome\Port-wine stain in Rubinstein-Taybi syndrome (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)\Rubinstein-Taybi syndrome\Port-wine stain in Rubinstein-Taybi syndrome (disorder)

\General finding of soft tissue\Blood vessel finding\Capillary finding\Disorder of capillaries (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Disorder of capillaries (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Disorder of capillaries (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome (disorder)

\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Disorder of capillaries (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Cardiovascular finding\Blood vessel finding\Capillary finding\Disorder of capillaries (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Disorder of capillaries (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Rubinstein-Taybi syndrome\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Rubinstein-Taybi syndrome\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Disorder of capillaries (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)\Rubinstein-Taybi syndrome\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)\Rubinstein-Taybi syndrome\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Disease\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Disease\Disorder of soft tissue\Vascular disorder\Disorder of capillaries (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Rubinstein-Taybi syndrome\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)\Rubinstein-Taybi syndrome\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)\Rubinstein-Taybi syndrome\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)\Rubinstein-Taybi syndrome\Port-wine stain in Rubinstein-Taybi syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1771691012 Port-wine stain in Rubinstein-Taybi syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1782775011 Port-wine stain in Rubinstein-Taybi syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

750541000052115 portvinsfläck vid Rubinstein-Taybis syndrom sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Port-wine stain in Rubinstein-Taybi syndrome (disorder)	Is a	Capillary malformation	true	Inferred relationship	Some
Port-wine stain in Rubinstein-Taybi syndrome (disorder)	Is a	Rubinstein-Taybi syndrome	true	Inferred relationship	Some
Port-wine stain in Rubinstein-Taybi syndrome (disorder)	Finding site	Structure of capillary blood vessel	false	Inferred relationship	Some	1
Port-wine stain in Rubinstein-Taybi syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Port-wine stain in Rubinstein-Taybi syndrome (disorder)	Associated morphology	kongenital vaskulär missbildning	false	Inferred relationship	Some	1
Port-wine stain in Rubinstein-Taybi syndrome (disorder)	Associated morphology	medfödd missbildning	false	Inferred relationship	Some	1
Port-wine stain in Rubinstein-Taybi syndrome (disorder)	Associated morphology	medfödd missbildning	false	Inferred relationship	Some	1
Port-wine stain in Rubinstein-Taybi syndrome (disorder)	Finding site	Structure of capillary blood vessel	true	Inferred relationship	Some	1
Port-wine stain in Rubinstein-Taybi syndrome (disorder)	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Port-wine stain in Rubinstein-Taybi syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Port-wine stain in Rubinstein-Taybi syndrome (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Port-wine stain in Rubinstein-Taybi syndrome (disorder)	Finding site	Structure of capillary blood vessel	false	Inferred relationship	Some	2
Port-wine stain in Rubinstein-Taybi syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Port-wine stain in Rubinstein-Taybi syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Port-wine stain in Rubinstein-Taybi syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Port-wine stain in Rubinstein-Taybi syndrome (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1771691012	Port-wine stain in Rubinstein-Taybi syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1782775011	Port-wine stain in Rubinstein-Taybi syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
750541000052115	portvinsfläck vid Rubinstein-Taybis syndrom	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)