4602007: Robin sequence (disorder)

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

\Finding of head and neck region\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

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

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

12306201000172115 séquence de Pierre-Robin fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

12306211000172117 syndrome de Pierre-Robin fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5000311000172114 geïsoleerd Pierre Robin-syndroom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5000321000172116 PRBNS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

5000331000172118 Pierre Robin-sequentie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

5000341000172113 syndroom van Robin nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5000351000172110 sequentie van Robin nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5000361000172112 syndroom van micrognathie, palatoschisis en glossoptosis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5000371000172115 syndroom van Pierre Robin nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5000381000172117 syndroom van micrognathie, gespleten gehemelte en glossoptose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

10845151000172115 Pierre Robin nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

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	Developmental anomaly	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

Belgian GP subset (foundation metadata concept)

Belgian subset for medical problems in patient health records