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16129004: 10q partial monosomy (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
4555203014 10q partial monosomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555204015 10q partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4442601000241119 monosomie partielle 10q 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
10q partial monosomy (disorder) Is a Deletion of part of autosome false Inferred relationship Some
10q partial monosomy (disorder) Is a Anomaly of chromosome pair 10 false Inferred relationship Some
10q partial monosomy (disorder) Associated morphology Deletion of long arm false Inferred relationship Some
10q partial monosomy (disorder) Finding site Sex chromosome false Inferred relationship Some
10q partial monosomy (disorder) Occurrence Congenital false Inferred relationship Some
10q partial monosomy (disorder) Finding site Chromosome pair 10 false Inferred relationship Some 2
10q partial monosomy (disorder) Associated morphology Monosomy false Inferred relationship Some 1
10q partial monosomy (disorder) Associated morphology anomalie congénitale false Inferred relationship Some 2
10q partial monosomy (disorder) Finding site Chromosome pair 10 false Inferred relationship Some 1
10q partial monosomy (disorder) Associated morphology Monosomy false Inferred relationship Some
10q partial monosomy (disorder) Associated morphology anomalie congénitale false Inferred relationship Some
10q partial monosomy (disorder) Occurrence Congenital true Inferred relationship Some 1
10q partial monosomy (disorder) Finding site Chromosome pair 10 true Inferred relationship Some 1
10q partial monosomy (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
10q partial monosomy (disorder) Occurrence Congenital true Inferred relationship Some 2
10q partial monosomy (disorder) Associated morphology Deletion of long arm false Inferred relationship Some 2
10q partial monosomy (disorder) Finding site Chromosome pair 10 false Inferred relationship Some 2
10q partial monosomy (disorder) Is a Deletion of part of chromosome 10 (disorder) true Inferred relationship Some
10q partial monosomy (disorder) Finding site Long arm of chromosome true Inferred relationship Some 2
10q partial monosomy (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay. Is a True 10q partial monosomy (disorder) Inferred relationship Some
Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported. Is a True 10q partial monosomy (disorder) Inferred relationship Some
10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip, cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive. Is a True 10q partial monosomy (disorder) Inferred relationship Some
Proximal deletion of long arm of chromosome 10 (disorder) Is a True 10q partial monosomy (disorder) Inferred relationship Some

This concept is not in any reference sets

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