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719574007: 14q12 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3313396013 14q12 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313397016 14q12 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313420014 Monosomy 14q12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402153012 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402154018 14q12 microdeletion syndrome is a recently described syndrome characterised by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313396013 14q12 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313396013 14q12 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313397016 14q12 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313397016 14q12 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313420014 Monosomy 14q12 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313420014 Monosomy 14q12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313421013 A recently described syndrome with characteristics of severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. The phenotype includes other features: postnatal growth retardation and microcephaly, hypotonia, epilepsy, stereotypic movements and feeding problems. Dysmorphic features associate prominent metopic suture, bilateral epicanthic folds, bulbous nasal tip, tented upper lip, everted lower lip and large ears. This syndrome is caused by an interstitial deletion encompassing 14q12. They have a variable size and include FOXG1 as the gene responsible for the intellectual deficit and severe microcephaly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402153012 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402154018 14q12 microdeletion syndrome is a recently described syndrome characterised by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3386131001000110 FOXG1-Syndrom durch Mikrodeletion 14q12 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
884241000172114 del(14)(q12) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
961611000172117 syndrome de microdélétion 14q12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
884241000172114 del(14)(q12) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
961611000172117 syndrome de microdélétion 14q12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3386131001000110 FOXG1-Syndrom durch Mikrodeletion 14q12 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
14q12 microdeletion syndrome (disorder) Is a Anomaly of chromosome pair 14 false Inferred relationship Existential restriction modifier (core metadata concept)
14q12 microdeletion syndrome (disorder) Is a Deletion of part of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
14q12 microdeletion syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
14q12 microdeletion syndrome (disorder) Finding site Chromosome pair 14 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
14q12 microdeletion syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
14q12 microdeletion syndrome (disorder) Finding site Chromosome pair 14 (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
14q12 microdeletion syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
14q12 microdeletion syndrome (disorder) Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier (core metadata concept) 3
14q12 microdeletion syndrome (disorder) Is a Deletion of part of chromosome 14 false Inferred relationship Existential restriction modifier (core metadata concept)
14q12 microdeletion syndrome (disorder) Is a Partial deletion of long arm of chromosome 14 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
14q12 microdeletion syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
14q12 microdeletion syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
14q12 microdeletion syndrome (disorder) Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
14q12 microdeletion syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
14q12 microdeletion syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
14q12 microdeletion syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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