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783164002: Distal monosomy 20q syndrome (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3757911018 Distal deletion 20q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3757913015 Distal monosomy 20q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4555824014 Distal monosomy 20q syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4555831013 Distal monosomy 20q syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3757914014 A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 20 with a highly variable phenotype. Typical characteristics are global developmental delay with important speech and language deficits, intellectual disability, hypotonia, epilepsy, behavioural anomalies (for example autism spectrum disorder behaviours) and hand and feet skeletal malformations. Craniofacial dysmorphism, including microcephaly, high forehead, hypertelorism, broad nasal bridge, bulbous nasal tip, malformed ears, long philtrum, thin upper lip and microretrognathia may be occasionally associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3757915010 A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 20 with a highly variable phenotype. Typical characteristics are global developmental delay with important speech and language deficits, intellectual disability, hypotonia, epilepsy, behavioral anomalies (for example autism spectrum disorder behaviors) and hand and feet skeletal malformations. Craniofacial dysmorphism, including microcephaly, high forehead, hypertelorism, broad nasal bridge, bulbous nasal tip, malformed ears, long philtrum, thin upper lip and microretrognathia may be occasionally associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

1249911000172118 monosomie distale 20q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

1258781000172115 distale monosomie 20q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
monosomie distale 20q	Is a	Deletion of part of long arm of chromosome 20 (disorder)	false	Inferred relationship	Some
monosomie distale 20q	Finding site	Chromosome pair 20	false	Inferred relationship	Some	2
monosomie distale 20q	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	2
monosomie distale 20q	Occurrence	Congenital	false	Inferred relationship	Some	2
monosomie distale 20q	Finding site	Chromosome pair 20	false	Inferred relationship	Some	1
monosomie distale 20q	Associated morphology	Partial monosomy (morphologic abnormality)	false	Inferred relationship	Some	1
monosomie distale 20q	Occurrence	Congenital	false	Inferred relationship	Some	1
monosomie distale 20q	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
monosomie distale 20q	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
monosomie distale 20q	Finding site	Long arm of chromosome	false	Inferred relationship	Some	2
monosomie distale 20q	Associated morphology	Partial monosomy (morphologic abnormality)	false	Inferred relationship	Some	2
monosomie distale 20q	Is a	Multiple system malformation syndrome	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3757911018	Distal deletion 20q	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3757913015	Distal monosomy 20q	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555824014	Distal monosomy 20q syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555831013	Distal monosomy 20q syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3757914014	A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 20 with a highly variable phenotype. Typical characteristics are global developmental delay with important speech and language deficits, intellectual disability, hypotonia, epilepsy, behavioural anomalies (for example autism spectrum disorder behaviours) and hand and feet skeletal malformations. Craniofacial dysmorphism, including microcephaly, high forehead, hypertelorism, broad nasal bridge, bulbous nasal tip, malformed ears, long philtrum, thin upper lip and microretrognathia may be occasionally associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757915010	A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 20 with a highly variable phenotype. Typical characteristics are global developmental delay with important speech and language deficits, intellectual disability, hypotonia, epilepsy, behavioral anomalies (for example autism spectrum disorder behaviors) and hand and feet skeletal malformations. Craniofacial dysmorphism, including microcephaly, high forehead, hypertelorism, broad nasal bridge, bulbous nasal tip, malformed ears, long philtrum, thin upper lip and microretrognathia may be occasionally associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1249911000172118	monosomie distale 20q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1258781000172115	distale monosomie 20q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)