205824006: Noonan's syndrome (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\syndrome familial avec prédisposition aux cancers (trouble)\Noonan's syndrome

\Developmental hereditary disorder\Noonan's syndrome

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Noonan's syndrome

\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome, moderate short stature, facial\Noonan's syndrome

\trouble du développement\Developmental hereditary disorder\Noonan's syndrome
\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome, moderate short stature, facial\Noonan's syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

2475674013 Noonan-Ehmke syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2475675014 Turner-like syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2475676010 Noonan syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

315625018 Noonan's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

527951000241112 syndrome de Noonan (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

591246012 Noonan's syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

909271000172111 syndrome de Noonan fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Noonan's syndrome	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
Noonan's syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Noonan's syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Noonan's syndrome	est un(e) (attribut)	Multisystem disorder (disorder)	false	Inferred relationship	Some
Noonan's syndrome	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Noonan's syndrome	est un(e) (attribut)	Multiple malformation syndrome, moderate short stature, facial	true	Inferred relationship	Some
Noonan's syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some
Noonan's syndrome	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
Noonan's syndrome	est un(e) (attribut)	maladie du système musculosquelettique (trouble)	false	Inferred relationship	Some
Noonan's syndrome	est un(e) (attribut)	Multisystem disorder M-N (navigational concept)	false	Inferred relationship	Some
Noonan's syndrome	est un(e) (attribut)	syndrome familial avec prédisposition aux cancers (trouble)	true	Inferred relationship	Some
Noonan's syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Noonan's syndrome	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	1
Noonan's syndrome	localisation d'une constatation (attribut)	appareil locomoteur	false	Inferred relationship	Some

Inbound Relationships

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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)