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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
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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mosaic 1q duplication Is a A rare autosomal trisomy, characterised 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 Existential restriction modifier (core metadata concept)
Mosaic 1q duplication Associated morphology Chromosome mosaicism true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic 1q duplication Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic 1q duplication Finding site Chromosome pair 1 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic 1q duplication Finding site Chromosome pair 1 true Inferred relationship Existential restriction modifier (core metadata concept) 3
Mosaic 1q duplication Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 3
Mosaic 1q duplication Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Mosaic 1q duplication Is a Partial trisomy of long arm of chromosome 1 true Inferred relationship Existential restriction modifier (core metadata concept)
Mosaic 1q duplication Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic 1q duplication Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic 1q duplication Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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