768927001: Trisomy 1q syndrome (disorder)

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\Trisomy 1q syndrome (disorder)

\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Trisomy 1q syndrome (disorder)
\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Trisomy 1q syndrome (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Trisomy 1q syndrome (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Trisomy 1q syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Trisomy 1q syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Trisomy 1q syndrome (disorder)

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

3687513019 Trisomy 1q syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3687514013 Trisomy 1q syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3687515014 Duplication 1q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5404749015 Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (including macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404750015 Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterised by intellectual disability, short stature, craniofacial dysmorphism (including macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections. 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
Trisomy 1q syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
Trisomy 1q syndrome (disorder)	Is a	Partial trisomy of long arm of chromosome 1 (disorder)	true	Inferred relationship	Some
Trisomy 1q syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Trisomy 1q syndrome (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
Trisomy 1q syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Trisomy 1q syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Trisomy 1q syndrome (disorder)	Finding site	Chromosome pair 1	true	Inferred relationship	Some	2
Trisomy 1q syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Trisomy 1q syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Trisomy 1q syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Medial duplication of long arm of chromosome 1	Is a	False	Trisomy 1q syndrome (disorder)	Inferred relationship	Some

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3687513019	Trisomy 1q syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3687514013	Trisomy 1q syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3687515014	Duplication 1q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5404749015	Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (including macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404750015	Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterised by intellectual disability, short stature, craniofacial dysmorphism (including macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core