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768931007: Partial trisomy of long arm of chromosome 1 (disorder)

Status: current, 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
3687528019 Partial duplication of long arm of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3687529010 Partial trisomy of long arm of chromosome 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3687530017 Partial trisomy of long arm of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5518641000241114 trisomie partielle du bras long du chromosome 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Partial trisomy of long arm of chromosome 1 (disorder) Finding site Chromosome pair 1 true Inferred relationship Some 2
Partial trisomy of long arm of chromosome 1 (disorder) Occurrence Congenital true Inferred relationship Some 2
Partial trisomy of long arm of chromosome 1 (disorder) Finding site Long arm of chromosome true Inferred relationship Some 1
Partial trisomy of long arm of chromosome 1 (disorder) Associated morphology Partial trisomy true Inferred relationship Some 1
Partial trisomy of long arm of chromosome 1 (disorder) Occurrence Congenital true Inferred relationship Some 1
Partial trisomy of long arm of chromosome 1 (disorder) Associated morphology Partial trisomy true Inferred relationship Some 2
Partial trisomy of long arm of chromosome 1 (disorder) Is a Partial trisomy of chromosome 1 true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
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. Is a True Partial trisomy of long arm of chromosome 1 (disorder) Inferred relationship Some
1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis. Is a True Partial trisomy of long arm of chromosome 1 (disorder) Inferred relationship Some
Mosaic 1q duplication Is a True Partial trisomy of long arm of chromosome 1 (disorder) Inferred relationship Some
Proximal duplication of long arm of chromosome 1 Is a True Partial trisomy of long arm of chromosome 1 (disorder) Inferred relationship Some
Distal trisomy 1q (disorder) Is a True Partial trisomy of long arm of chromosome 1 (disorder) Inferred relationship Some
Medial duplication of long arm of chromosome 1 Is a True Partial trisomy of long arm of chromosome 1 (disorder) Inferred relationship Some

This concept is not in any reference sets

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