717633007: Distal monosomy 1q syndrome (disorder)

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

\Fetal and/or neonatal disorder\Congenital disease\...

\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\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.

\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 1 (disorder)\1q partial monosomy\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.

\Anomaly of chromosome pair 1\Deletion of part of chromosome 1 (disorder)\1q partial monosomy\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.

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 1 (disorder)\1q partial monosomy\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.

\Anomaly of chromosome pair 1\Deletion of part of chromosome 1 (disorder)\1q partial monosomy\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.

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\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.

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

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

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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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.	Is a	Anomaly of chromosome pair 1	false	Inferred relationship	Some
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.	Is a	Monosomy and deletion from autosome	false	Inferred relationship	Some
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.	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
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.	Occurrence	Congenital	true	Inferred relationship	Some	1
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.	Finding site	Chromosome pair 1	false	Inferred relationship	Some	1
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.	Finding site	Chromosome pair 1	true	Inferred relationship	Some	2
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.	Occurrence	Congenital	true	Inferred relationship	Some	2
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.	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
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.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
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.	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
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.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
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.	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
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.	Is a	1q partial monosomy	true	Inferred relationship	Some

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