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726383004: Deletion of part of long arm of chromosome 12 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3464841018 Deletion of part of long arm of chromosome 12 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3464842013 Deletion of part of long arm of chromosome 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6046741000241111 monosomie partielle du bras long du chromosome 12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6046751000241114 délétion partielle du bras long du chromosome 12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of long arm of chromosome 12 (disorder) Is a Deletion of part of chromosome 12 (disorder) true Inferred relationship Some
Deletion of part of long arm of chromosome 12 (disorder) Occurrence Congenital true Inferred relationship Some 2
Deletion of part of long arm of chromosome 12 (disorder) Finding site Chromosome pair 12 true Inferred relationship Some 2
Deletion of part of long arm of chromosome 12 (disorder) Occurrence Congenital false Inferred relationship Some 3
Deletion of part of long arm of chromosome 12 (disorder) Finding site Chromosome pair 12 false Inferred relationship Some 3
Deletion of part of long arm of chromosome 12 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Deletion of part of long arm of chromosome 12 (disorder) Associated morphology Deletion of long arm false Inferred relationship Some 3
Deletion of part of long arm of chromosome 12 (disorder) Occurrence Congenital true Inferred relationship Some 1
Deletion of part of long arm of chromosome 12 (disorder) Finding site Long arm of chromosome true Inferred relationship Some 1
Deletion of part of long arm of chromosome 12 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. Is a True Deletion of part of long arm of chromosome 12 (disorder) Inferred relationship Some
12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated. Is a True Deletion of part of long arm of chromosome 12 (disorder) Inferred relationship Some
A partial autosomal monosomy characterized by variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies, and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. Is a True Deletion of part of long arm of chromosome 12 (disorder) Inferred relationship Some
12q15 deletion syndrome (disorder) Is a True Deletion of part of long arm of chromosome 12 (disorder) Inferred relationship Some
12q24.31-q24.32 deletion syndrome Is a True Deletion of part of long arm of chromosome 12 (disorder) Inferred relationship Some
Distal deletion of long arm of chromosome 12 (disorder) Is a True Deletion of part of long arm of chromosome 12 (disorder) Inferred relationship Some
Proximal deletion of long arm of chromosome 12 (disorder) Is a True Deletion of part of long arm of chromosome 12 (disorder) Inferred relationship Some

This concept is not in any reference sets

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