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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

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 Some
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by pre- and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia, and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion, and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum), behavioral problems and seizures may be associated. Associated morphology True Deletion of long arm Inferred relationship Some 2
An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. Associated morphology False Deletion of long arm Inferred relationship Some 5
Chromosome 2q37 deletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 2
syndrome de délétion 14q32 Associated morphology False Deletion of long arm Inferred relationship Some 2
12q15 deletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Some 2
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. Associated morphology False Deletion of long arm Inferred relationship Some 2
5q22.2 deletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 2
9q34 deletion syndrome (disorder) Associated morphology True Deletion of long arm Inferred relationship Some 2
A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. Associated morphology False Deletion of long arm Inferred relationship Some 4
12q24.31-q24.32 deletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 2
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. Associated morphology False Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 16 Associated morphology False Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 12 (disorder) Associated morphology False Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 2 (disorder) Associated morphology False Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 3 Associated morphology False Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 8 (disorder) Associated morphology True Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 9 (disorder) Associated morphology True Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 6 (disorder) Associated morphology True Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 7 Associated morphology False Deletion of long arm Inferred relationship Some 2
Paternal 14q32.2 microdeletion (disorder) Associated morphology False Deletion of long arm Inferred relationship Some 2
Medial deletion of long arm of chromosome 1 Associated morphology False Deletion of long arm Inferred relationship Some 2
Medial deletion of long arm of chromosome 1 Associated morphology False Deletion of long arm Inferred relationship Some 3
Medial deletion of long arm of chromosome 9 (disorder) Associated morphology True Deletion of long arm Inferred relationship Some 2
Medial deletion of long arm of chromosome 9 (disorder) Associated morphology True Deletion of long arm Inferred relationship Some 3
Medial deletion of long arm of chromosome 7 (disorder) Associated morphology False Deletion of long arm Inferred relationship Some 2
Medial duplication of long arm of chromosome 2 Associated morphology True Deletion of long arm Inferred relationship Some 2
Medial duplication of long arm of chromosome 4 (disorder) Associated morphology True Deletion of long arm Inferred relationship Some 2
Medial duplication of long arm of chromosome 1 Associated morphology False Deletion of long arm Inferred relationship Some 2
Medial duplication of long arm of chromosome 7 (disorder) Associated morphology True Deletion of long arm Inferred relationship Some 2
Medial duplication of long arm of chromosome 5 (disorder) Associated morphology False Deletion of long arm Inferred relationship Some 2
Medial deletion of long arm of chromosome 5 (disorder) Associated morphology False Deletion of long arm Inferred relationship Some 2
Medial deletion of long arm of chromosome 2 Associated morphology False Deletion of long arm Inferred relationship Some 2
Medial deletion of long arm of chromosome 4 (disorder) Associated morphology True Deletion of long arm Inferred relationship Some 3
Medial duplication of long arm of chromosome 9 Associated morphology True Deletion of long arm Inferred relationship Some 2
Deletion of long arm of chromosome 18 Associated morphology True Deletion of long arm Inferred relationship Some 2
Deletion of long arm of chromosome 13 Associated morphology False Deletion of long arm Inferred relationship Some 2
6q16 microdeletion syndrome Associated morphology True Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 8 Associated morphology True Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 9 (disorder) Associated morphology True Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 7 (disorder) Associated morphology False Deletion of long arm Inferred relationship Some 2
Proximal deletion of long arm of chromosome 5 Associated morphology False Deletion of long arm Inferred relationship Some 2
Proximal deletion of long arm of chromosome 6 (disorder) Associated morphology True Deletion of long arm Inferred relationship Some 2
Proximal deletion of long arm of chromosome 4 (disorder) Associated morphology True Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 3 (disorder) Associated morphology False Deletion of long arm Inferred relationship Some 2
Proximal deletion of long arm of chromosome 18 Associated morphology True Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 2 Associated morphology False Deletion of long arm Inferred relationship Some 2
Proximal deletion of long arm of chromosome 17 (disorder) Associated morphology False Deletion of long arm Inferred relationship Some 2
Proximal deletion of long arm of chromosome 16 (disorder) Associated morphology False Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 10 (disorder) Associated morphology True Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 1 (disorder) Associated morphology False Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 12 (disorder) Associated morphology False Deletion of long arm Inferred relationship Some 2
Proximal deletion of long arm of chromosome 11 (disorder) Associated morphology True Deletion of long arm Inferred relationship Some 2
A partial monosomy of the long arm of chromosome 9 characterized by intellectual disability, developmental delay with pronounced speech delay, short stature, and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly, prominent forehead, round face, arched eyebrows, upslanting palpebral fissures, strabismus, short nose, and thin upper lip. Other clinical findings include epilepsy, ataxia, unspecific brain MRI findings, early-onset primary dystonia, nail dysplasia, and bone malformations, in particular patellar abnormalities, epistaxis, and cutaneous-mucous telangiectasias. Associated morphology True Deletion of long arm Inferred relationship Some 3
A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus. Associated morphology True Deletion of long arm Inferred relationship Some 4
A rare chromosomal anomaly characterized by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported. Associated morphology True Deletion of long arm Inferred relationship Some 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 Some 4
A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands. Associated morphology True Deletion of long arm Inferred relationship Some 4

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