439143004: Simpson-Golabi-Behmel syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Simpson-Golabi-Behmel syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Simpson-Golabi-Behmel syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Simpson-Golabi-Behmel syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Simpson-Golabi-Behmel syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Simpson-Golabi-Behmel syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Simpson-Golabi-Behmel syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Simpson-Golabi-Behmel syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Simpson-Golabi-Behmel syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Simpson-Golabi-Behmel syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Simpson-Golabi-Behmel syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Simpson-Golabi-Behmel syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Simpson-Golabi-Behmel syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Simpson-Golabi-Behmel syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Simpson-Golabi-Behmel syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Simpson-Golabi-Behmel syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2009. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

2789362014 Simpson-Golabi-Behmel syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

2791857019 Bulldog syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

2794097016 Simpson-Golabi-Behmel syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Simpson-Golabi-Behmel syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Simpson-Golabi-Behmel syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Simpson-Golabi-Behmel syndrome	Is a	Hereditary disorder of endocrine system	false	Inferred relationship	Existential restriction modifier
Simpson-Golabi-Behmel syndrome	Is a	Gigantism	false	Inferred relationship	Existential restriction modifier
Simpson-Golabi-Behmel syndrome	Has definitional manifestation	Increased hormone production	false	Inferred relationship	Existential restriction modifier
Simpson-Golabi-Behmel syndrome	Finding site	Structure of pars distalis of pituitary	false	Inferred relationship	Existential restriction modifier
Simpson-Golabi-Behmel syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Existential restriction modifier
Simpson-Golabi-Behmel syndrome	Is a	Multiple malformation syndrome with early overgrowth	true	Inferred relationship	Existential restriction modifier
Simpson-Golabi-Behmel syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Simpson-Golabi-Behmel syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Simpson-Golabi-Behmel syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Simpson-Golabi-Behmel syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Simpson-Golabi-Behmel syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Simpson-Golabi-Behmel syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Simpson-Golabi-Behmel syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Simpson-Golabi-Behmel syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2789362014	Simpson-Golabi-Behmel syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
2791857019	Bulldog syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2794097016	Simpson-Golabi-Behmel syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module