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717633007: Distal monosomy 1q syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3309872013 Distal monosomy 1q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3309873015 Distal deletion 1q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3309874014 Monosomy 1qter en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3309875010 Telomeric deletion 1q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555958019 Distal monosomy 1q syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555959010 Distal monosomy 1q syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401581013 A rare chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastroesophageal and urogenital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401582018 A rare chromosomal anomaly characterised by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophageal and urogenital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3309866013 Distal monosomy 1q (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3309866013 Distal monosomy 1q (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3309872013 Distal monosomy 1q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3309872013 Distal monosomy 1q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3309873015 Distal deletion 1q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3309873015 Distal deletion 1q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3309874014 Monosomy 1qter en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3309874014 Monosomy 1qter en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3309875010 Telomeric deletion 1q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3309875010 Telomeric deletion 1q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555958019 Distal monosomy 1q syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555959010 Distal monosomy 1q syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3309876011 A chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-esophageal and urogenital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3309877019 A chromosomal anomaly characterised by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophageal and urogenital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401581013 A rare chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastroesophageal and urogenital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401582018 A rare chromosomal anomaly characterised by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophageal and urogenital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3394321001000115 Monosomie 1qter de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
911951000172113 monosomie distale 1q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
951061000172116 délétion distale 1q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
911951000172113 monosomie distale 1q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
951061000172116 délétion distale 1q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3394321001000115 Monosomie 1qter 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
Distal monosomy 1q syndrome (disorder) Is a Anomaly of chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept)
Distal monosomy 1q syndrome (disorder) Is a Monosomy and deletion from autosome (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Distal monosomy 1q syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 1q syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 1q syndrome (disorder) Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 1q syndrome (disorder) Finding site Chromosome pair 1 true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 1q syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 1q syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 1q syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 1q syndrome (disorder) Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 1q syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 1q syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Distal monosomy 1q syndrome (disorder) Is a 1q partial monosomy (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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