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

SNOMED CT Concept\Clinical finding\...

\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\Rubinstein-Taybi syndrome\Port-wine stain in Rubinstein-Taybi syndrome

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

\General finding of observation of patient\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\Rubinstein-Taybi syndrome\Port-wine stain in Rubinstein-Taybi syndrome

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

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

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 SNOMED CT core module

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

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
Port-wine stain in Rubinstein-Taybi syndrome	Is a	Rubinstein-Taybi syndrome	true	Inferred relationship	Existential restriction modifier
Port-wine stain in Rubinstein-Taybi syndrome	Finding site	Structure of capillary blood vessel	false	Inferred relationship	Existential restriction modifier	1
Port-wine stain in Rubinstein-Taybi syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Port-wine stain in Rubinstein-Taybi syndrome	Associated morphology	Congenital vascular anomaly	false	Inferred relationship	Existential restriction modifier	1
Port-wine stain in Rubinstein-Taybi syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier	1
Port-wine stain in Rubinstein-Taybi syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier	1
Port-wine stain in Rubinstein-Taybi syndrome	Finding site	Structure of capillary blood vessel	true	Inferred relationship	Existential restriction modifier	1
Port-wine stain in Rubinstein-Taybi syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Port-wine stain in Rubinstein-Taybi syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Port-wine stain in Rubinstein-Taybi syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Port-wine stain in Rubinstein-Taybi syndrome	Finding site	Structure of capillary blood vessel	false	Inferred relationship	Existential restriction modifier	2
Port-wine stain in Rubinstein-Taybi syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Port-wine stain in Rubinstein-Taybi syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Port-wine stain in Rubinstein-Taybi syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Port-wine stain in Rubinstein-Taybi syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	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	SNOMED CT core module
1782775011	Port-wine stain in Rubinstein-Taybi syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module