439143004: syndrome de Simpson-Golabi-Behmel (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une région de la tête et du cou\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)

\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Simpson-Golabi-Behmel syndrome (disorder)
\affection de la tête\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\maladie héréditaire\syndrome familial avec prédisposition aux cancers (trouble)\Simpson-Golabi-Behmel syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Simpson-Golabi-Behmel syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Simpson-Golabi-Behmel syndrome (disorder)
\Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Simpson-Golabi-Behmel syndrome (disorder)
\Disease\affection de la tête\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\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Simpson-Golabi-Behmel syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with early overgrowth (disorder)\Simpson-Golabi-Behmel syndrome (disorder)
\Disease\Congenital disease\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\trouble du développement\Developmental hereditary disorder\Simpson-Golabi-Behmel syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Simpson-Golabi-Behmel syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with early overgrowth (disorder)\Simpson-Golabi-Behmel syndrome (disorder)
\Disease\trouble du développement\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)	morphologie associée (attribut)	structure anormale sur le plan morphologique	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)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Simpson-Golabi-Behmel syndrome (disorder)	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some
Simpson-Golabi-Behmel syndrome (disorder)	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
Simpson-Golabi-Behmel syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of nervous system	false	Inferred relationship	Some
Simpson-Golabi-Behmel syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of endocrine system (disorder)	false	Inferred relationship	Some
Simpson-Golabi-Behmel syndrome (disorder)	est un(e) (attribut)	Gigantism	false	Inferred relationship	Some
Simpson-Golabi-Behmel syndrome (disorder)	est défini par la manifestation de (attribut)	Increased hormone production	false	Inferred relationship	Some
Simpson-Golabi-Behmel syndrome (disorder)	localisation d'une constatation (attribut)	Structure of pars distalis of pituitary (body structure)	false	Inferred relationship	Some
Simpson-Golabi-Behmel syndrome (disorder)	est un(e) (attribut)	syndrome familial avec prédisposition aux cancers (trouble)	true	Inferred relationship	Some
Simpson-Golabi-Behmel syndrome (disorder)	est un(e) (attribut)	Multiple malformation syndrome with early overgrowth (disorder)	true	Inferred relationship	Some
Simpson-Golabi-Behmel syndrome (disorder)	est un(e) (attribut)	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Simpson-Golabi-Behmel syndrome (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	1
Simpson-Golabi-Behmel syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Simpson-Golabi-Behmel syndrome (disorder)	localisation d'une constatation (attribut)	face	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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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
707491000241118	syndrome de Simpson-Golabi-Behmel (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
931681000172118	syndrome de Simpson-Golabi-Behmel	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
951791000172111	DGX - dysplasie, gigantisme lié à l'X	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)