FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

254274004: Deletion of part of autosome (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
378508010 Deletion of part of autosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
645144014 Deletion of part of autosome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5083361000241113 délétion d'une partie de l'autosome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

241 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of autosome Is a Monosomy and deletion from autosome true Inferred relationship Some
Deletion of part of autosome Occurrence Congenital false Inferred relationship Some
Deletion of part of autosome Associated morphology Alteration of chromosome structure false Inferred relationship Some
Deletion of part of autosome Finding site Chromosome structure false Inferred relationship Some 1
Deletion of part of autosome Associated morphology anomalie congénitale false Inferred relationship Some 1
Deletion of part of autosome Finding site Chromosome structure false Inferred relationship Some 1
Deletion of part of autosome Associated morphology anomalie congénitale false Inferred relationship Some
Deletion of part of autosome Occurrence Congenital true Inferred relationship Some 1
Deletion of part of autosome Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
Deletion of part of autosome Finding site Chromosome true Inferred relationship Some 1
Deletion of part of autosome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
21q partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Some
10q partial monosomy (disorder) Is a False Deletion of part of autosome Inferred relationship Some
4p partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Some
8p partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Some
22q partial monosomy (disorder) Is a False Deletion of part of autosome Inferred relationship Some
7p partial monosomy (disorder) Is a False Deletion of part of autosome Inferred relationship Some
8q partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Some
1q partial monosomy Is a False Deletion of part of autosome Inferred relationship Some
12p partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Some
1p partial monosomy Is a False Deletion of part of autosome Inferred relationship Some
16q partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Some
4q partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Some
11q partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Some
9q partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Some
10p partial monosomy syndrome (disorder) Is a False Deletion of part of autosome Inferred relationship Some
15q partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Some
5p partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Some
7q partial monosomy Is a False Deletion of part of autosome Inferred relationship Some
Deletion of long arm of chromosome 13 Is a False Deletion of part of autosome Inferred relationship Some
Deletion of long arm of chromosome 18 Is a False Deletion of part of autosome Inferred relationship Some
Deletion of short arm of chromosome 18 Is a False Deletion of part of autosome Inferred relationship Some
Other deletions of part of a chromosome Is a False Deletion of part of autosome Inferred relationship Some
Other deletion of part of a chromosome NOS Is a False Deletion of part of autosome Inferred relationship Some
Other deletions from the autosomes Is a False Deletion of part of autosome Inferred relationship Some
Monosomies and deletions from the autosomes NOS Is a False Deletion of part of autosome Inferred relationship Some
[X]Other deletions of part of a chromosome Is a False Deletion of part of autosome Inferred relationship Some
22q11 partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Some
3p partial monosomy syndrome (disorder) Is a False Deletion of part of autosome Inferred relationship Some
13q partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Some
4p partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Some
9p partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Some
18q partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Some
Chromosome 1p36 deletion syndrome (disorder) Is a False Deletion of part of autosome Inferred relationship Some
18p partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Some
11q partial monosomy syndrome Is a False Deletion of part of autosome Inferred relationship Some
Deletion of long arm of chromosome 17 Is a False Deletion of part of autosome Inferred relationship Some
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. Is a False Deletion of part of autosome Inferred relationship Some
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. Is a False Deletion of part of autosome Inferred relationship Some
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Is a False Deletion of part of autosome Inferred relationship Some
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. Is a False Deletion of part of autosome Inferred relationship Some
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Is a False Deletion of part of autosome Inferred relationship Some
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 False Deletion of part of autosome Inferred relationship Some
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. Is a False Deletion of part of autosome Inferred relationship Some
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. Is a False Deletion of part of autosome Inferred relationship Some
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism. Is a False Deletion of part of autosome Inferred relationship Some
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. Is a False Deletion of part of autosome Inferred relationship Some
16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems. Is a False Deletion of part of autosome Inferred relationship Some
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Is a False Deletion of part of autosome Inferred relationship Some
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. Is a False Deletion of part of autosome Inferred relationship Some
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Is a False Deletion of part of autosome Inferred relationship Some
2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. Is a False Deletion of part of autosome Inferred relationship Some
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. Is a False Deletion of part of autosome Inferred relationship Some
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. Is a False Deletion of part of autosome Inferred relationship Some
2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. Is a False Deletion of part of autosome Inferred relationship Some
A rare autosomal monosomy characterized by a variable phenotype with moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features. Is a False Deletion of part of autosome Inferred relationship Some
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Is a False Deletion of part of autosome Inferred relationship Some
6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations. Is a False Deletion of part of autosome Inferred relationship Some
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. Is a False Deletion of part of autosome Inferred relationship Some
A rare partial deletion of the long arm of chromosome 6 characterized by a variable clinical phenotype that includes a characteristic craniofacial dysmorphism (including microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set, characteristic downturned mouth, and short neck), global development delay, intellectual disability, and variable, non-specific, congenital malformations. Muscular hypotonia, seizures, retinal anomalies, and variable brain abnormalities have been reported in association. Is a False Deletion of part of autosome Inferred relationship Some
X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait. Is a False Deletion of part of autosome Inferred relationship Some
Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3. The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment. Is a False Deletion of part of autosome Inferred relationship Some
Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated. Is a False Deletion of part of autosome Inferred relationship Some
Deletion of part of chromosome 2 (disorder) Is a True Deletion of part of autosome Inferred relationship Some
Deletion of part of chromosome 3 (disorder) Is a True Deletion of part of autosome Inferred relationship Some
Deletion of part of chromosome 4 (disorder) Is a True Deletion of part of autosome Inferred relationship Some
Deletion of part of chromosome 5 (disorder) Is a True Deletion of part of autosome Inferred relationship Some
Deletion of part of chromosome 6 (disorder) Is a True Deletion of part of autosome Inferred relationship Some
Deletion of part of chromosome 7 (disorder) Is a True Deletion of part of autosome Inferred relationship Some
Deletion of part of chromosome 8 (disorder) Is a True Deletion of part of autosome Inferred relationship Some
Deletion of part of chromosome 9 (disorder) Is a True Deletion of part of autosome Inferred relationship Some
Deletion of part of chromosome 10 (disorder) Is a True Deletion of part of autosome Inferred relationship Some
Deletion of part of chromosome 11 (disorder) Is a True Deletion of part of autosome Inferred relationship Some
Deletion of part of chromosome 12 (disorder) Is a True Deletion of part of autosome Inferred relationship Some
Deletion of part of chromosome 13 (disorder) Is a True Deletion of part of autosome Inferred relationship Some
Deletion of part of chromosome 14 (disorder) Is a True Deletion of part of autosome Inferred relationship Some
Deletion of part of chromosome 15 (disorder) Is a True Deletion of part of autosome Inferred relationship Some
Deletion of part of chromosome 16 (disorder) Is a True Deletion of part of autosome Inferred relationship Some
Deletion of part of chromosome 17 (disorder) Is a True Deletion of part of autosome Inferred relationship Some
Deletion of part of chromosome 18 (disorder) Is a True Deletion of part of autosome Inferred relationship Some
Deletion of part of chromosome 19 (disorder) Is a True Deletion of part of autosome Inferred relationship Some
Deletion of part of chromosome 20 (disorder) Is a True Deletion of part of autosome Inferred relationship Some
Deletion of part of chromosome 21 (disorder) Is a True Deletion of part of autosome Inferred relationship Some
Deletion of part of chromosome 22 (disorder) Is a True Deletion of part of autosome Inferred relationship Some
Deletion of part of chromosome 1 (disorder) Is a True Deletion of part of autosome Inferred relationship Some
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported. Is a False Deletion of part of autosome Inferred relationship Some

This concept is not in any reference sets

Back to Start