FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.3  |  FHIR Version n/a  User: [n/a]

1003415002: Medial duplication of long arm of chromosome 1 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4168197016 Medial duplication of long arm of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4168198014 Medial duplication of long arm of chromosome 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Medial duplication of long arm of chromosome 1 Occurrence Congenital true Inferred relationship Some 1
Medial duplication of long arm of chromosome 1 Finding site Chromosome pair 1 true Inferred relationship Some 1
Medial duplication of long arm of chromosome 1 Associated morphology Partial trisomy true Inferred relationship Some 1
Medial duplication of long arm of chromosome 1 Associated morphology Deletion of long arm false Inferred relationship Some 2
Medial duplication of long arm of chromosome 1 Finding site Long arm of chromosome false Inferred relationship Some 2
Medial duplication of long arm of chromosome 1 Occurrence Congenital false Inferred relationship Some 2
Medial duplication of long arm of chromosome 1 Is a 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. false Inferred relationship Some
Medial duplication of long arm of chromosome 1 Finding site Long arm of chromosome true Inferred relationship Some 3
Medial duplication of long arm of chromosome 1 Associated morphology Partial trisomy true Inferred relationship Some 3
Medial duplication of long arm of chromosome 1 Occurrence Congenital true Inferred relationship Some 3
Medial duplication of long arm of chromosome 1 Is a Partial trisomy of long arm of chromosome 1 (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start