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1003389000: Mosaic 1q duplication (disorder)

Status: current, 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
4168139015 Mosaic 1q duplication en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4168140018 Mosaic 1q duplication (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
7692561000241118 duplication 1q en mosaïque fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7692571000241114 duplication en mosaïque 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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mosaic 1q duplication Is a A rare autosomal trisomy, characterized by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (camptodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism. false Inferred relationship Some
Mosaic 1q duplication Associated morphology Chromosome mosaicism true Inferred relationship Some 1
Mosaic 1q duplication Occurrence Congenital true Inferred relationship Some 1
Mosaic 1q duplication Finding site Chromosome pair 1 true Inferred relationship Some 1
Mosaic 1q duplication Finding site Chromosome pair 1 true Inferred relationship Some 3
Mosaic 1q duplication Associated morphology Partial trisomy true Inferred relationship Some 3
Mosaic 1q duplication Occurrence Congenital true Inferred relationship Some 3
Mosaic 1q duplication Is a Partial trisomy of long arm of chromosome 1 (disorder) true Inferred relationship Some
Mosaic 1q duplication Finding site Long arm of chromosome true Inferred relationship Some 2
Mosaic 1q duplication Associated morphology Partial trisomy true Inferred relationship Some 2
Mosaic 1q duplication Occurrence Congenital true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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