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205630009: Deletion of long arm of chromosome 13 (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
315362011 Deletion of long arm of chromosome 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
591026010 Deletion of long arm of chromosome 13 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1734881000005112 deletion af lange arm på kromosom 13 da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of long arm of chromosome 13 Is a Deletion of part of autosome false Inferred relationship Some
Deletion of long arm of chromosome 13 Associated morphology Alteration of chromosome structure false Inferred relationship Some
Deletion of long arm of chromosome 13 Occurrence Congenital false Inferred relationship Some
Deletion of long arm of chromosome 13 Finding site Chromosome structure false Inferred relationship Some 1
Deletion of long arm of chromosome 13 Associated morphology kongenit anomali false Inferred relationship Some 1
Deletion of long arm of chromosome 13 Associated morphology kongenit anomali false Inferred relationship Some
Deletion of long arm of chromosome 13 Finding site Chromosome structure false Inferred relationship Some 1
Deletion of long arm of chromosome 13 Occurrence Congenital true Inferred relationship Some 1
Deletion of long arm of chromosome 13 Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
Deletion of long arm of chromosome 13 Finding site Chromosome false Inferred relationship Some 1
Deletion of long arm of chromosome 13 Is a Deletion of part of chromosome 13 (disorder) true Inferred relationship Some
Deletion of long arm of chromosome 13 Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Deletion of long arm of chromosome 13 Finding site Chromosome pair 13 true Inferred relationship Some 1
Deletion of long arm of chromosome 13 Associated morphology Deletion of long arm false Inferred relationship Some 2
Deletion of long arm of chromosome 13 Finding site Chromosome pair 13 false Inferred relationship Some 2
Deletion of long arm of chromosome 13 Occurrence Congenital true Inferred relationship Some 2
Deletion of long arm of chromosome 13 Finding site Long arm of chromosome true Inferred relationship Some 2
Deletion of long arm of chromosome 13 Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
13q partial monosomy syndrome Is a True Deletion of long arm of chromosome 13 Inferred relationship Some
Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported. Is a True Deletion of long arm of chromosome 13 Inferred relationship Some
Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (including micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism. Is a True Deletion of long arm of chromosome 13 Inferred relationship Some
Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum. Is a True Deletion of long arm of chromosome 13 Inferred relationship Some
13q12.3 microdeletion syndrome (disorder) Is a True Deletion of long arm of chromosome 13 Inferred relationship Some

This concept is not in any reference sets

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