40354009: syndroom van Cornelia de Lange (aandoening)

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

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)\De Lange syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)\De Lange 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

63895010 De Lange syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

63896011 Cornelia de Lange syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

63897019 Brachmann-de Lange syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

63898012 Amsterdam dwarf en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

776981010 De Lange syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

1229636012 Degenerative amstelodamensis typus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1229637015 Degenerative amsterodamensis typus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1229638013 Typus degenerativus amstelodamensis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1229639017 Bruck-de Lange syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

348191000146118 syndroom van Cornelia de Lange nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

348201000146116 syndroom van Cornelia de Lange (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10300641000146115 Syndroom met een aangeboren sterke ontwikkeling van de spieren, afwijkingen in de motoriek en een ernstige verstandelijke achterstand. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
De Lange syndrome	Is a	Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	true	Inferred relationship	Some
De Lange syndrome	Is a	Congenital anomaly of nervous system	true	Inferred relationship	Some
De Lange syndrome	Occurrence	Congenital	false	Inferred relationship	Some
De Lange syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
De Lange syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
De Lange syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
De Lange syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
De Lange syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
De Lange syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
De Lange syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	2
De Lange syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
De Lange syndrome	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
De Lange syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
De Lange syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
De Lange syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships

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This concept is not in any reference sets