205824006: Noonan's syndrome (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary cancer-predisposing syndrome\Noonan's syndrome

\Developmental hereditary disorder\Noonan's syndrome

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

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

\Developmental disorder\Developmental hereditary disorder\Noonan's syndrome
\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\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

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

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

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

909271000172111 syndrome de Noonan fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Noonan's syndrome	Is a	Disorder of musculoskeletal system	false	Inferred relationship	Some
Noonan's syndrome	Is a	Multisystem disorder M-N	false	Inferred relationship	Some
Noonan's syndrome	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some
Noonan's syndrome	Is a	trouble multisytémique	false	Inferred relationship	Some
Noonan's syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Noonan's syndrome	Is a	Multiple malformation syndrome, moderate short stature, facial	true	Inferred relationship	Some
Noonan's syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Noonan's syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Noonan's syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some
Noonan's syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Noonan's syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Some	1
Noonan's syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Noonan's syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Noonan's syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

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Reference Sets

Description inactivation indicator reference set