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764725008: 9p13 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3654892018 9p13 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654893011 Monosomy 9p13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654894017 9p13 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404363012 9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicanthic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404364018 9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterised by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicanthic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3654892018 9p13 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3654892018 9p13 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654893011 Monosomy 9p13 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3654893011 Monosomy 9p13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654894017 9p13 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3654894017 9p13 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654655016 A rare chromosomal anomaly syndrome resulting from a partial interstitial deletion of the short arm of chromosome 9. The disease has characteristics of mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (bilateral epicanthic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404363012 9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicanthic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404364018 9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterised by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicanthic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3438051001000116 Mikrodeletionssyndrom 9p13 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
910611000172113 del(9)(p13) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
982621000172117 syndrome de microdélétion 9p13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
910611000172113 del(9)(p13) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
982621000172117 syndrome de microdélétion 9p13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3438051001000116 Mikrodeletionssyndrom 9p13 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
9p13 microdeletion syndrome (disorder) Is a 9p partial monosomy syndrome false Inferred relationship Existential restriction modifier (core metadata concept)
9p13 microdeletion syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
9p13 microdeletion syndrome (disorder) Finding site Chromosome pair 9 true Inferred relationship Existential restriction modifier (core metadata concept) 2
9p13 microdeletion syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
9p13 microdeletion syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
9p13 microdeletion syndrome (disorder) Associated morphology Deletion of short arm true Inferred relationship Existential restriction modifier (core metadata concept) 1
9p13 microdeletion syndrome (disorder) Finding site Chromosome pair 9 true Inferred relationship Existential restriction modifier (core metadata concept) 1
9p13 microdeletion syndrome (disorder) Is a Deletion of part of chromosome 9 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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