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45582004: 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

\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

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Rubinstein-Taybi syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\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
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome, small stature, without skeletal dysplasia\Rubinstein-Taybi syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\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
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome, small stature, without skeletal dysplasia\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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

76004014 Rubinstein-Taybi syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

782837014 Rubinstein-Taybi syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Rubinstein-Taybi syndrome	Is a	Multisystem disorder Q-R	false	Inferred relationship	Existential restriction modifier
Rubinstein-Taybi syndrome	Is a	Multiple malformation syndrome, small stature, without skeletal dysplasia	true	Inferred relationship	Existential restriction modifier
Rubinstein-Taybi syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Rubinstein-Taybi syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Rubinstein-Taybi syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Existential restriction modifier
Rubinstein-Taybi syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Rubinstein-Taybi syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Rubinstein-Taybi syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Rubinstein-Taybi syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Rubinstein-Taybi syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Rubinstein-Taybi syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Port-wine stain in Rubinstein-Taybi syndrome	Is a	True	Rubinstein-Taybi syndrome	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
76004014	Rubinstein-Taybi syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
782837014	Rubinstein-Taybi syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module