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 (finding)\Disorder of stature\Short stature disorder (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

\Finding of general physiological development\Disorder of stature\Short stature disorder (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

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Rubinstein-Taybi syndrome\Port-wine stain in Rubinstein-Taybi syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Cardiovascular system hereditary disorder\Port-wine stain in Rubinstein-Taybi syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Rubinstein-Taybi syndrome\Port-wine stain in Rubinstein-Taybi syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\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
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)\Rubinstein-Taybi syndrome\Port-wine stain in Rubinstein-Taybi syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Cardiovascular system hereditary disorder\Port-wine stain in Rubinstein-Taybi syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Port-wine stain in Rubinstein-Taybi syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Disease of capillaries\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome
\Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome
\Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Disease of capillaries\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Rubinstein-Taybi syndrome\Port-wine stain in Rubinstein-Taybi syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\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
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)\Rubinstein-Taybi syndrome\Port-wine stain in Rubinstein-Taybi syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Port-wine stain in Rubinstein-Taybi syndrome
\Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (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

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Port-wine stain in Rubinstein-Taybi syndrome	Is a	Capillary malformation	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Port-wine stain in Rubinstein-Taybi syndrome	Is a	Rubinstein-Taybi syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Port-wine stain in Rubinstein-Taybi syndrome	Finding site	Structure of capillary blood vessel	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Port-wine stain in Rubinstein-Taybi syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Port-wine stain in Rubinstein-Taybi syndrome	Associated morphology	Congenital vascular anomaly	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Port-wine stain in Rubinstein-Taybi syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Port-wine stain in Rubinstein-Taybi syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Port-wine stain in Rubinstein-Taybi syndrome	Finding site	Structure of capillary blood vessel	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Port-wine stain in Rubinstein-Taybi syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Port-wine stain in Rubinstein-Taybi syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Port-wine stain in Rubinstein-Taybi syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Port-wine stain in Rubinstein-Taybi syndrome	Finding site	Structure of capillary blood vessel	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Port-wine stain in Rubinstein-Taybi syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Port-wine stain in Rubinstein-Taybi syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Port-wine stain in Rubinstein-Taybi syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Port-wine stain in Rubinstein-Taybi syndrome	Interprets	Height / growth measure (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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
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
5264381000241111	tache de vin de Porto dans le syndrome de Rubinstein-Taybi	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5264381000241111	tache de vin de Porto dans le syndrome de Rubinstein-Taybi	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module