717633007: distale monosomie 1q (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Distal monosomy 1q syndrome

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

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

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

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

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

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

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Distal monosomy 1q syndrome

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

7885691000146113 distale monosomie 1q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7885701000146113 distale monosomie 1q (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8033261000146115 distale monosomie van lange arm van chromosoom 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets