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4602007: sequentie van Robin (aandoening)

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

\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\Robin sequence
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Robin sequence
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Robin sequence

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
Robin sequence	Is a	Multisystem disorder O-P	false	Inferred relationship	Some
Robin sequence	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Robin sequence	Occurrence	Congenital	false	Inferred relationship	Some
Robin sequence	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Robin sequence	Occurrence	Congenital	true	Inferred relationship	Some	1
Robin sequence	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Robin sequence	Finding site	Face structure	true	Inferred relationship	Some	1
Robin sequence	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Robin sequence	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder)	Is a	True	Robin sequence	Inferred relationship	Some
Pierre Robin sequence faciodigital anomaly syndrome (disorder)	Is a	True	Robin sequence	Inferred relationship	Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Is a	True	Robin sequence	Inferred relationship	Some
Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder)	Is a	True	Robin sequence	Inferred relationship	Some
Robin sequence and oligodactyly syndrome	Is a	True	Robin sequence	Inferred relationship	Some
Joint contractures, developmental delay, Pierre Robin syndrome (disorder)	Is a	True	Robin sequence	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
7920012	Robin sequence	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
7921011	Micrognathia-glossoptosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7922016	Pierre Robin syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
783324010	Robin sequence (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1230294017	Pierre Robin association	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6723041000146115	Pierre Robin-sequentie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6723051000146117	geïsoleerd Pierre Robin-syndroom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6723061000146119	syndroom van Pierre Robin	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6723111000146115	PRBNS	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7257801000146113	sequentie van Robin	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7257811000146110	syndroom van Robin	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8268641000146114	syndroom van micrognathie, palatoschisis en glossoptosis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8278651000146116	sequentie van Robin (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8278661000146118	syndroom van micrognathie, gespleten gehemelte en glossoptose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11514281000146114	pierre-robinsequentie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13079921000146117	Aangeboren afwijking aan mond, kaak en tong.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)