111312006: Anomaly of chromosome X (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

178544019 Anomaly of chromosome X en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

630219013 Anomaly of chromosome X (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4750091000241114 anomalie du chromosome X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Anomaly of chromosome X	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome X	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Anomaly of chromosome X	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome X	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome X	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Anomaly of chromosome X	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Anomaly of chromosome X	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
Anomaly of chromosome X	Is a	Congenital chromosomal disease	false	Inferred relationship	Some
Anomaly of chromosome X	Occurrence	Congenital	false	Inferred relationship	Some	1
Anomaly of chromosome X	Is a	Anomaly of sex chromosome	true	Inferred relationship	Some
Anomaly of chromosome X	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Anomaly of chromosome X	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Anomaly of chromosome X	Occurrence	Congenital	true	Inferred relationship	Some	2
Anomaly of chromosome X	Associated morphology	Chromosomal morphology	true	Inferred relationship	Some	2
Anomaly of chromosome X	Finding site	Sex chromosome X	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fragile X chromosome	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
Female with more than three X chromosomes	Is a	False	Anomaly of chromosome X	Inferred relationship	Some
Mosaicism - lines with various numbers of X chromosomes	Is a	False	Anomaly of chromosome X	Inferred relationship	Some
A male with two or more X chromosomes.	Is a	False	Anomaly of chromosome X	Inferred relationship	Some
Trisomy X syndrome	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
Turner syndrome	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
XXXXY syndrome	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
XX males	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
XXXY syndrome	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
Klinefelter's syndrome	Is a	False	Anomaly of chromosome X	Inferred relationship	Some
Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). Prevalence is unknown but only around 40 cases have been reported in the literature so far. Tetrasomy X is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay are generally mild to moderate. Commonly associated facial features include hypertelorism, upslanting palpebral fissures, epicanthal folds and a flat nasal bridge. Other anomalies may include dental abnormalities, hypotonia and joint laxity, radioulnar synostosis, heart defects, hip dysplasia, and ovarian dysfunction. An increased susceptibility to infections during childhood has also been reported. Tetrasomy X is generally thought to arise as a result of successive maternal nondisjunction during meiosis.	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
Klinefelter's syndrome - male with more than two X chromosomes	Is a	False	Anomaly of chromosome X	Inferred relationship	Some
Penta X syndrome	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
A male with two or more X chromosomes.	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.	Is a	True	Anomaly of chromosome X	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	True	Anomaly of chromosome X	Inferred relationship	Some
Xq28-Duplikationssyndrom, proximales	Is a	False	Anomaly of chromosome X	Inferred relationship	Some
A rare constitutional hemolytic anemia that is characterized by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.	Is a	True	Anomaly of chromosome X	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	True	Anomaly of chromosome X	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	True	Anomaly of chromosome X	Inferred relationship	Some
Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (including microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
X-linked acrogigantism	Is a	False	Anomaly of chromosome X	Inferred relationship	Some
Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
49,XXXYY syndrome is a rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (e.g. prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (including solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development, may also be associated.	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
A rare syndromic X-linked intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, obesity, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
A rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence.	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
A uniparental disomy of paternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the father is a carrier and specific phenotype depends on the inherited disorder.	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
A type of familial infantile gigantism caused by microduplication of Xq26.3. Onset usually occurs in the first year of life in previously normal infants. Patients present with gigantism and may associate acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans. May present as a sporadic condition or as familial isolated pituitary adenomas.	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
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.	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces.	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterised in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable.	Is a	True	Anomaly of chromosome X	Inferred relationship	Some
A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes.	Is a	True	Anomaly of chromosome X	Inferred relationship	Some

Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
178544019	Anomaly of chromosome X	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
630219013	Anomaly of chromosome X (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4750091000241114	anomalie du chromosome X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module