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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
10q partial monosomy (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept)
22q partial monosomy Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept)
8q partial monosomy syndrome Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 1
1q partial monosomy (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept)
16q partial monosomy syndrome Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept)
4q partial monosomy syndrome Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept)
18q partial monosomy syndrome Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept)
11q partial monosomy syndrome Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept)
9q partial monosomy syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept)
15q partial monosomy syndrome Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept)
Williams syndrome Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 4
7q partial monosomy Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept)
8q partial monosomy syndrome Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept)
15q13.3 microdeletion Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
1q21.1 microdeletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept)
21q partial monosomy syndrome (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 1
10q partial monosomy (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
1q partial monosomy (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
18q partial monosomy syndrome Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 1
15q partial monosomy syndrome Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
8q partial monosomy syndrome Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 1
4q partial monosomy syndrome Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
22q partial monosomy Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 1
7q partial monosomy Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
16q partial monosomy syndrome Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
9q partial monosomy syndrome (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 1
13q partial monosomy syndrome Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 1
11q partial monosomy syndrome Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Jacobsen syndrome Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
1q41q42 microdeletion syndrome Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
3q29 microdeletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
8q21.11 microdeletion syndrome (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 10q Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
12q14 microdeletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 5
14q11.2 microdeletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 4
Deletion of long arm of chromosome 17 Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
17q23.1q23.2 microdeletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
2q23.1 microdeletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
2q24 microdeletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare autosomal monosomy characterised by a variable phenotype with moderate to severe intellectual disability, behavioural problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features. Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
14q12 microdeletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
15q14 microdeletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
4q21 microdeletion syndrome (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
6q25 microdeletion syndrome (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
6q terminal deletion syndrome (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
8q22.1 microdeletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 4
1q21.1 microdeletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
1q44 microdeletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 5
Deletion 5q35 (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Paternal 20q13.2q13.3 microdeletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Monosomy 9q22.3 syndrome (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 4
X-linked diffuse leiomyomatosis with Alport syndrome Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 4
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 17q (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of long arm of chromosome 5 (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of long arm of chromosome 20 (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of long arm of chromosome 3 (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of long arm of chromosome 19 Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of long arm of chromosome 6 (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of long arm of chromosome 2 (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of long arm of chromosome 12 (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated. Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
17q12 microdeletion syndrome Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of long arm of chromosome 17 Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
12q15q21.1 microdeletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal 22q11.2 microdeletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated. Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 13q syndrome Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal chromosome 18q deletion syndrome (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (including genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported. Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal chromosome 18q deletion syndrome Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Monosomy 13q34 syndrome Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 1
22q11.2 deletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
5q31.3 microdeletion syndrome Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 14q syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
10q22.3q23.3 microdeletion syndrome Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 1
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 1
Non-distal monosomy 10q (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 1
Monosomy 13q14 syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 1
3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
16q24.1 microdeletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
9q22.3 deletion syndrome Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
12q14 microdeletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
8q22.1 microdeletion syndrome (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 1
14q11.2 microdeletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
9q31.1q31.3 microdeletion syndrome Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare chromosomal anomaly with characteristics of moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip) and reduced sensitivity to pain. Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
14q24.1q24.3 microdeletion syndrome (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 3
3q26q27 microdeletion syndrome Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 1
Non-distal monosomy 12q (disorder) Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Monosomie 14q, distale Associated morphology False Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 4q Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2
21q22.11q22.12 microdeletion syndrome Associated morphology True Deletion of long arm Inferred relationship Existential restriction modifier (core metadata concept) 2

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