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78989007: Trisomy (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
131068017 Trisomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
819989012 Trisomy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
131068017 Trisomy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
131068017 Trisomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
819989012 Trisomy (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
819989012 Trisomy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Trisomy (morphologic abnormality) Is a Karyotype morphology true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Complete trisomy 9 syndrome Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 7 Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 9 (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 5 syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 14 syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 20 syndrome (disorder) Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 10p (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Fetus with complete trisomy 18 syndrome (disorder) Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Fetus with complete trisomy 13 syndrome Associated morphology False Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
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. Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Down syndrome co-occurrent with leukemoid reaction associated transient neonatal pustulosis (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Fetus with complete trisomy 13 syndrome Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Fetus with complete trisomy 18 syndrome (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 22 syndrome (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 22 syndrome Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 21- mitotic nondisjunction mosaicism Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Translocation Down syndrome (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Myeloid leukemia associated with Down syndrome (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 20 syndrome (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 20 syndrome (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 14 syndrome Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 5 syndrome Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 16 syndrome Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 8 syndrome (disorder) Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 16 syndrome Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 13, meiotic nondisjunction Associated morphology True Trisomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1

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