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40354009: De Lange syndrome (disorder)

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

\Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (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 (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:

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	Existential restriction modifier (core metadata concept)
De Lange syndrome	Is a	Congenital anomaly of nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
De Lange syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
De Lange syndrome	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
De Lange syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
De Lange syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
De Lange syndrome	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
De Lange syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
De Lange syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
De Lange syndrome	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
De Lange syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
De Lange syndrome	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
De Lange syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
De Lange syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
De Lange syndrome	Interprets	Height / growth measure (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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
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
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	Only initial character case insensitive (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	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1229636012	Degenerative amstelodamensis typus	en	Synonym (core metadata concept)	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	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1229637015	Degenerative amsterodamensis typus	en	Synonym (core metadata concept)	Active	Entire term case sensitive (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	Only initial character 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	Only initial character 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
3383561001000115	Cornelia de Lange-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4522041000241116	syndrome de Cornelia de Lange	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4522041000241116	syndrome de Cornelia de Lange	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3383561001000115	Cornelia de Lange-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module