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371169004: Partial monosomy (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1196464015 Partial monosomy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1209870015 Partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Partial monosomy (morphologic abnormality) Is a Karyotype morphology true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
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 True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of long arm of chromosome 16 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of chromosome 14 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of chromosome 15 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of chromosome 21 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of long arm of chromosome 12 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of long arm of chromosome 2 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of long arm of chromosome 3 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of long arm of chromosome 8 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of long arm of chromosome 9 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of long arm of chromosome 6 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of long arm of chromosome 7 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of long arm of chromosome 7 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Distal deletion of short arm of chromosome 1 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of chromosome 13 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of short arm of chromosome 3 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of short arm of chromosome 8 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Paternal 14q32.2 microdeletion (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of short arm of chromosome 1 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of long arm of chromosome 1 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of long arm of chromosome 9 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of long arm of chromosome 7 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of long arm of chromosome 7 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Maternal 15q11q13 deletion Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of long arm of chromosome 5 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of long arm of chromosome 2 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of chromosome 13 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of chromosome 14 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of long arm of chromosome 4 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of short arm of chromosome 18 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of long arm of chromosome 18 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of long arm of chromosome 13 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
6q16 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 6
Proximal deletion of long arm of chromosome 8 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 9 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 7 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 7 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Proximal deletion of long arm of chromosome 5 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 6 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 4 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 3 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 18 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 2 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 17 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 16 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of chromosome 13 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 10 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of chromosome 21 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 1 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of chromosome 14 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of chromosome 15 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of short arm of chromosome 8 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 12 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 11 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of short arm of chromosome 6 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of short arm of chromosome 1 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of short arm of chromosome 3 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of short arm of chromosome 9 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of short arm of chromosome 7 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
10q partial monosomy (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip, cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 10 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
1p partial monosomy Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Chromosome 1p36 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of short arm of chromosome 1 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Medial deletion of short arm of chromosome 1 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Proximal deletion of short arm of chromosome 1 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
1q partial monosomy Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
1q21.1 microdeletion Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of long arm of chromosome 1 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Proximal deletion of long arm of chromosome 1 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
22q partial monosomy (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
A rare genetic neurodevelopmental disorder characterised by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
A rare genetic neurodevelopmental disorder characterised by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognathia and pointed chin. For certain very distal deletions including the SMARCB1 gene, there is a risk of developing malignant rhabdoid tumors. Most deletions are de novo. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of long arm of chromosome 20 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
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 True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Monosomie 14q, distale Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 2
20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of short arm of chromosome 20 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
20p12.2 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
A rare chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastroesophageal and urogenital anomalies. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
14q24.1q24.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
syndrome de délétion 14q32 Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and ophthalmological anomalies were also reported. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2

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