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64329008: Deletion of long arm (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
106929012 Deletion of long arm en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
803710013 Deletion of long arm (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
106929012 Deletion of long arm en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
106929012 Deletion of long arm en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
803710013 Deletion of long arm (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
803710013 Deletion of long arm (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of long arm Is a Alteration of chromosome structure true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
21q22.11q22.12 microdeletion syndrome Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Choroideremia with deafness and obesity syndrome Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 5
Chromosome 2q37 deletion syndrome Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
14q32 deletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
12q15 deletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
17q11 deletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
5q22.2 deletion syndrome Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
9q34 deletion syndrome (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 4
12q24.31-q24.32 deletion syndrome Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
12q15q21.1 microdeletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal deletion of long arm of chromosome 16 Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal deletion of long arm of chromosome 12 (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal deletion of long arm of chromosome 2 (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal deletion of long arm of chromosome 3 Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal deletion of long arm of chromosome 8 (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal deletion of long arm of chromosome 9 Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal deletion of long arm of chromosome 6 (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal deletion of long arm of chromosome 7 Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Paternal 14q32.2 microdeletion (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial deletion of long arm of chromosome 1 Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial deletion of long arm of chromosome 1 Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Medial deletion of long arm of chromosome 9 (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial deletion of long arm of chromosome 9 (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Medial deletion of long arm of chromosome 7 Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial duplication of long arm of chromosome 2 (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial duplication of long arm of chromosome 4 Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial duplication of long arm of chromosome 1 Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial duplication of long arm of chromosome 7 Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial duplication of long arm of chromosome 5 (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial deletion of long arm of chromosome 5 (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial deletion of long arm of chromosome 2 Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial deletion of long arm of chromosome 4 Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Medial duplication of long arm of chromosome 9 (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of long arm of chromosome 18 (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of long arm of chromosome 13 (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
6q16 microdeletion syndrome Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Proximal deletion of long arm of chromosome 8 Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Proximal deletion of long arm of chromosome 9 Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Proximal deletion of long arm of chromosome 7 (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of long arm of chromosome 5 Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of long arm of chromosome 6 (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of long arm of chromosome 4 Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Proximal deletion of long arm of chromosome 3 (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of long arm of chromosome 18 Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Proximal deletion of long arm of chromosome 2 (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of long arm of chromosome 17 (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of long arm of chromosome 16 (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Proximal deletion of long arm of chromosome 10 Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Proximal deletion of long arm of chromosome 1 (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Proximal deletion of long arm of chromosome 12 Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of long arm of chromosome 11 (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
9q33.3q34.11 microdeletion syndrome (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
9q21.13 microdeletion syndrome Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 4
11q22.2q22.3 microdeletion syndrome Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures. Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 4
4q25 proximal deletion syndrome Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 4

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