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128430005: X-linked hereditary disease (disorder)

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
206738018 X-linked hereditary disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
732421011 X-linked hereditary disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
7169851000241110 maladie héréditaire liée à l'X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

391 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked hereditary disease Is a Sex-linked hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Lesch-Nyhan syndrome Is a False X-linked hereditary disease Inferred relationship Some
Ocular albinism, type II Is a False X-linked hereditary disease Inferred relationship Some
Atrophia bulborum hereditaria Is a False X-linked hereditary disease Inferred relationship Some
Fabry's disease Is a True X-linked hereditary disease Inferred relationship Some
Borjeson-Forssman-Lehmann syndrome Is a False X-linked hereditary disease Inferred relationship Some
Hereditary factor VIII deficiency disease Is a True X-linked hereditary disease Inferred relationship Some
Placental sulfatase deficiency Is a True X-linked hereditary disease Inferred relationship Some
Hereditary factor IX deficiency disease Is a True X-linked hereditary disease Inferred relationship Some
Menkes kinky-hair syndrome Is a False X-linked hereditary disease Inferred relationship Some
diabète insipide néphrogénique héréditaire Is a False X-linked hereditary disease Inferred relationship Some
Glucose-6-phosphate dehydrogenase deficiency anemia Is a True X-linked hereditary disease Inferred relationship Some
X-linked agammaglobulinemia Is a True X-linked hereditary disease Inferred relationship Some
Mucopolysaccharidosis, MPS-II Is a False X-linked hereditary disease Inferred relationship Some
X-linked hydrocephalus syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked ichthyosis with steryl-sulfatase deficiency Is a False X-linked hereditary disease Inferred relationship Some
X-linked lymphoproliferative syndrome Is a False X-linked hereditary disease Inferred relationship Some
Ocular albinism, type I Is a False X-linked hereditary disease Inferred relationship Some
Glycogen storage disease, type VI Is a False X-linked hereditary disease Inferred relationship Some
Congenital adrenal hypoplasia, X-linked (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Danon disease Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability with marfanoid habitus (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Simpson-Golabi-Behmel syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Lenz microphthalmia syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Dent's disease (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Nance-Horan syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Some
X-linked periventricular heterotopia (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked dystonia parkinsonism Is a False X-linked hereditary disease Inferred relationship Some
X-linked creatine deficiency Is a True X-linked hereditary disease Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Is a True X-linked hereditary disease Inferred relationship Some
Oculofaciocardiodental syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Renpenning syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a False X-linked hereditary disease Inferred relationship Some
Christianson syndrome Is a False X-linked hereditary disease Inferred relationship Some
PPM-X syndrome Is a False X-linked hereditary disease Inferred relationship Some
Partington syndrome Is a False X-linked hereditary disease Inferred relationship Some
Snyder-Robinson syndrome Is a False X-linked hereditary disease Inferred relationship Some
Deafness-dystonia-optic neuronopathy syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Dilated cardiomyopathy 3B (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterised by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. Is a False X-linked hereditary disease 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 False X-linked hereditary disease Inferred relationship Some
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Spondyloepiphyseal dysplasia tarda Is a False X-linked hereditary disease Inferred relationship Some
Adolescent X-linked adrenoleukodystrophy (disorder) Is a False X-linked hereditary disease Inferred relationship Some
X-linked dyskeratosis congenita (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Childhood cerebral X-linked adrenoleukodystrophy Is a False X-linked hereditary disease Inferred relationship Some
3-Methylglutaconic aciduria type 2 Is a False X-linked hereditary disease Inferred relationship Some
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Is a False X-linked hereditary disease Inferred relationship Some
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. Is a False X-linked hereditary disease Inferred relationship Some
Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterized by intellectual deficiency and seizures that are more severe in male patients. Is a True X-linked hereditary disease Inferred relationship Some
A rare genetic eye disease characterized by abnormal proliferation of retinal tissue resulting in the formation of retinal folds, thereby causing gliosis and, clinically, variable degrees of visual impairment. No clinical findings other than those associated with the eyes have been demonstrated. Is a False X-linked hereditary disease Inferred relationship Some
A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. Is a False X-linked hereditary disease Inferred relationship Some
Choroideremia co-occurrent with hypopituitarism Is a False X-linked hereditary disease Inferred relationship Some
A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet. Is a False X-linked hereditary disease Inferred relationship Some
Microcephaly-microcornea syndrome, Seemanova type is characterized by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait. Is a True X-linked hereditary disease Inferred relationship Some
A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978. Is a False X-linked hereditary disease Inferred relationship Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. Is a False X-linked hereditary disease Inferred relationship Some
X-linked epilepsy-learning disabilities-behaviour disorders syndrome is characterised by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12). Is a False X-linked hereditary disease Inferred relationship Some
X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmented skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. Is a False X-linked hereditary disease Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures. Is a False X-linked hereditary disease Inferred relationship Some
Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance. Is a True X-linked hereditary disease Inferred relationship Some
A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported. Is a False X-linked hereditary disease Inferred relationship Some
A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. Is a False X-linked hereditary disease Inferred relationship Some
Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia. Is a False X-linked hereditary disease Inferred relationship Some
Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood. Is a False X-linked hereditary disease Inferred relationship Some
A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients. Is a False X-linked hereditary disease Inferred relationship Some
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. Is a False X-linked hereditary disease Inferred relationship Some
A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers. Is a False X-linked hereditary disease Inferred relationship Some
X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. Is a False X-linked hereditary disease Inferred relationship Some
A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour. Is a False X-linked hereditary disease Inferred relationship Some
X-linked cone dysfunction syndrome with myopia is characterized by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. Is a False X-linked hereditary disease Inferred relationship Some
A rare, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992. Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Zorick type Is a False X-linked hereditary disease Inferred relationship Some
An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death. Is a False X-linked hereditary disease Inferred relationship Some
Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies. Is a False X-linked hereditary disease Inferred relationship Some
An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections. Is a False X-linked hereditary disease Inferred relationship Some
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism. Is a False X-linked hereditary disease Inferred relationship Some
X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein. Is a False X-linked hereditary disease Inferred relationship Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome. Is a False X-linked hereditary disease Inferred relationship Some
An X-linked syndromic intellectual disability characterized by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described. Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability, Siderius type is characterized by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localized to the p11.21 region of the X chromosome. Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability, Stevenson type is characterized by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome. Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability, Stocco Dos Santos type is characterized by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behavior and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localized to the Xp11.2 region. Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability, Stoll type is characterized by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked. Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Turner type (disorder) Is a True X-linked hereditary disease Inferred relationship Some
A rare, genetic, syndromic intellectual disability characterised by developmental delay, mild to moderate intellectual disability, low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dysmorphism include upslanted palpebral fissures and prominent nasal bridge. Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability, Wilson type is characterized by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localized to the 11p region of the X chromosome. Is a True X-linked hereditary disease Inferred relationship Some
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. Is a False X-linked hereditary disease Inferred relationship Some
A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females. Is a False X-linked hereditary disease Inferred relationship Some
X-linked mental retardation, Miles-Carpenter type is characterized by severe intellectual deficit, microcephaly, exotropia and low digital arches. Is a False X-linked hereditary disease Inferred relationship Some
A rare developmental defect characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). Is a False X-linked hereditary disease Inferred relationship Some
A rare X-linked intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism. Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability, Armfield type is characterized by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28. Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations. Is a False X-linked hereditary disease Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, neurologic signs and symptoms (such as seizures, spasticity, strabismus), characteristic dysmorphic facial features (including broad forehead, hypertelorism, downslanting palpebral fissures, broad and flat nasal bridge, midline notch of upper lip, lack of upper central incisors, incomplete oral cleft, and prominent mandible), and acne scars. Hearing impairment, pseudo-bulbar palsy, growth retardation, and skeletal anomalies (camptodactyly, clinodactyly, bilateral cubitus valgus, pes cavus/planus) have also been described. Is a False X-linked hereditary disease Inferred relationship Some
Carpenter Waziri syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities. Is a False X-linked hereditary disease Inferred relationship Some
syndrome de déficience intellectuelle liée à l'X-agénésie du corps calleux-quadriparésie spastique Is a False X-linked hereditary disease Inferred relationship Some

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