439143004: Simpson-Golabi-Behmel syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

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

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

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

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

Descriptions:

Expanded Value Set

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

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
2789362014	Simpson-Golabi-Behmel syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2791857019	Bulldog syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2794097016	Simpson-Golabi-Behmel syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2078031000052115	Simpson-Golabi-Behmels syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)