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7586009: 14q partial trisomy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4564198014 14q partial trisomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4564203018 14q partial trisomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4413931000241117 trisomie partielle 14q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
14q partial trisomy (disorder) Is a Anomaly of chromosome pair 14 false Inferred relationship Some
14q partial trisomy (disorder) Is a Trisomy and partial trisomy of autosome false Inferred relationship Some
14q partial trisomy (disorder) Finding site Chromosome pair 14 false Inferred relationship Some 1
14q partial trisomy (disorder) Finding site Sex chromosome false Inferred relationship Some
14q partial trisomy (disorder) Occurrence Congenital false Inferred relationship Some
14q partial trisomy (disorder) Associated morphology Alteration of chromosome structure false Inferred relationship Some
14q partial trisomy (disorder) Associated morphology Trisomy false Inferred relationship Some
14q partial trisomy (disorder) Associated morphology anomalie congénitale false Inferred relationship Some 1
14q partial trisomy (disorder) Finding site Chromosome pair 14 false Inferred relationship Some 1
14q partial trisomy (disorder) Associated morphology anomalie congénitale false Inferred relationship Some
14q partial trisomy (disorder) Occurrence Congenital true Inferred relationship Some 1
14q partial trisomy (disorder) Finding site Chromosome pair 14 true Inferred relationship Some 1
14q partial trisomy (disorder) Associated morphology Partial trisomy true Inferred relationship Some 1
14q partial trisomy (disorder) Is a Partial trisomy of chromosome 14 (disorder) true Inferred relationship Some
14q partial trisomy (disorder) Occurrence Congenital true Inferred relationship Some 2
14q partial trisomy (disorder) Finding site Long arm of chromosome true Inferred relationship Some 2
14q partial trisomy (disorder) Associated morphology Partial trisomy true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia. Is a True 14q partial trisomy (disorder) Inferred relationship Some
14q partial proximal trisomy syndrome (disorder) Is a True 14q partial trisomy (disorder) Inferred relationship Some
14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. Is a True 14q partial trisomy (disorder) Inferred relationship Some
14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed. Is a True 14q partial trisomy (disorder) Inferred relationship Some

This concept is not in any reference sets

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