234138005: Bannayan syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Skin AND/OR mucosa finding\Skin finding\Mass of skin\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome

\Mass of body structure\Mass of soft tissue\Mass of skin\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Mass of body structure\Hamartoma of integument\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Mass of body structure\Mass of body region\Mass of skin\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome

\General finding of soft tissue\Mass of soft tissue\Mass of skin\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome
\General finding of soft tissue\Skin finding\Mass of skin\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome

\Finding of head and neck region\Head finding\...

\Finding of head circumference\Macrocephaly\Congenital macrocephaly\Bannayan syndrome

\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Bannayan syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Macrocephaly\Congenital macrocephaly\Bannayan syndrome

\Integumentary system finding\Disorder of integument\Hamartoma of integument\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Integumentary system finding\Skin finding\Mass of skin\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Disease\Neoplasm and/or hamartoma\Hamartoma\Hamartoma of integument\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Disease\Neoplasm and/or hamartoma\Hamartoma\Congenital hamartoma\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Disease\Disorder of body system\Disorder of integument\Hamartoma of integument\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Bannayan syndrome
\Disease\Congenital disease\Congenital hamartoma\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly\Bannayan syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\PTEN hamartoma tumor syndrome\Bannayan syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly\Bannayan 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

350791014 Bannayan syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

350792019 Bannayan-Zonana syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

350793012 Bannayan-Riley-Ruvalcaba syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

350794018 Macrocephaly with multiple lipomas and haemangiomas en Synonym Active Entire term case insensitive SNOMED CT core module

350795017 Macrocephaly with multiple lipomas and hemangiomas en Synonym Active Entire term case insensitive SNOMED CT core module

622419013 Bannayan syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3973092012 Ruvalcaba Myhre Smith syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3973093019 Riley Smith syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Bannayan syndrome	Is a	Multisystem disorder A-B	false	Inferred relationship	Existential restriction modifier
Bannayan syndrome	Is a	Macrocephaly	false	Inferred relationship	Existential restriction modifier
Bannayan syndrome	Associated morphology	Congenital hypertrophy	false	Inferred relationship	Existential restriction modifier	1
Bannayan syndrome	Finding site	Head structure	false	Inferred relationship	Existential restriction modifier	1
Bannayan syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Bannayan syndrome	Is a	Multisystem disorder	false	Inferred relationship	Existential restriction modifier
Bannayan syndrome	Associated morphology	Congenital hypertrophy	false	Inferred relationship	Existential restriction modifier	1
Bannayan syndrome	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	1
Bannayan syndrome	Associated morphology	Congenital enlargement	false	Inferred relationship	Existential restriction modifier	2
Bannayan syndrome	Finding site	Entire head	false	Inferred relationship	Existential restriction modifier	2
Bannayan syndrome	Is a	Hereditary cancer-predisposing syndrome	false	Inferred relationship	Existential restriction modifier
Bannayan syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Bannayan syndrome	Associated morphology	Congenital enlargement	false	Inferred relationship	Existential restriction modifier	1
Bannayan syndrome	Finding site	Entire head	false	Inferred relationship	Existential restriction modifier	1
Bannayan syndrome	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Existential restriction modifier
Bannayan syndrome	Is a	PTEN hamartoma tumor syndrome	true	Inferred relationship	Existential restriction modifier
Bannayan syndrome	Associated morphology	Hamartoma	true	Inferred relationship	Existential restriction modifier	2
Bannayan syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Bannayan syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	2
Bannayan syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Bannayan syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	2
Bannayan syndrome	Associated morphology	Enlargement	true	Inferred relationship	Existential restriction modifier	1
Bannayan syndrome	Is a	Congenital macrocephaly	true	Inferred relationship	Existential restriction modifier
Bannayan syndrome	Interprets	Head circumference	true	Inferred relationship	Existential restriction modifier	3
Bannayan syndrome	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier	3

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
350791014	Bannayan syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
350792019	Bannayan-Zonana syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
350793012	Bannayan-Riley-Ruvalcaba syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
350794018	Macrocephaly with multiple lipomas and haemangiomas	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
350795017	Macrocephaly with multiple lipomas and hemangiomas	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
622419013	Bannayan syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3973092012	Ruvalcaba Myhre Smith syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3973093019	Riley Smith syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module