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4602007: Robin sequence (disorder)

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
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 Only initial character case insensitive (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 Only initial character case insensitive (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 Only initial character case insensitive (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
3391001001000111 Pierre-Robin-Sequenz, isolierte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4403891000241114 syndrome de Pierre Robin fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4403891000241114 syndrome de Pierre Robin fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3391001001000111 Pierre-Robin-Sequenz, isolierte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Robin sequence Is a Multisystem disorder O-P false Inferred relationship Existential restriction modifier (core metadata concept)
Robin sequence Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Robin sequence Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Robin sequence Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Robin sequence Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Robin sequence Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Robin sequence Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Robin sequence Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Robin sequence Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. Is a True Robin sequence Inferred relationship Existential restriction modifier (core metadata concept)
Pierre Robin sequence faciodigital anomaly syndrome Is a True Robin sequence Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Is a True Robin sequence Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and psychomotor delay, Robin sequence (including severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophrys, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness. Is a True Robin sequence Inferred relationship Existential restriction modifier (core metadata concept)
Robin sequence and oligodactyly syndrome (disorder) Is a True Robin sequence Inferred relationship Existential restriction modifier (core metadata concept)
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) Is a True Robin sequence Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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