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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
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 Only initial character case insensitive (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

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 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked hereditary motor and sensory neuropathy Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked lethal multiple pterygium syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, alacrima, achalasia syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Fragile X associated tremor ataxia syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of corpus callosum and abnormal genitalia syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 1 Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Xq12-q13.3 duplication syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked agammaglobulinemia with growth hormone deficiency Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked muscular dystrophy with limb girdle distribution Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
A constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid. Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked non progressive cerebellar ataxia (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked cleft palate and ankyloglossia (disorder) Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked distal spinal muscular atrophy type 3 (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Otopalatodigital syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked spondyloepimetaphyseal dysplasia Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked parkinsonism with spasticity syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Infantile epileptic dyskinetic encephalopathy Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Absent radius, anogenital anomalies syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Severe neonatal onset encephalopathy with microcephaly Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Ogden syndrome Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare hereditary syndromic intellectual disability with characteristics of craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported. Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
dysplasie spondylo-épimétaphysaire type Bieganski Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia Golden type (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. Caused by hemizygous mutation in the NSDHL gene on chromosome Xq28. Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Contiguous ABCD1 DXS1357E deletion syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Distal Xq28 microduplication syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically neck rigidity, rigid spine, Achilles tendon shortening and respiratory insufficiency later in disease course are present. The phenotype is caused by mutation in the FHL1 gene. Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic lethal neurometabolic malformation syndrome with characteristics of multiple variable congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanelle, fused metopic suture, upslanted palpebral fissures, over folded helix, depressed nasal bridge, anteverted nose, malar flattening, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed. Caused by mutation in the PIGA gene on chromosome Xp22. Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial infantile gigantism (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked acrogigantism Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Ferro-cerebro-cutaneous syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Brachytelephalangic chondrodysplasia punctata (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Bulbospinal neuronopathy Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked osteoporosis with fractures Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Xp22.13p22.2 duplication syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Male emopamil-binding protein disorder with neurological defect Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked calvarial hyperostosis Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic neurological disorder characterized by the presence of two or more of the main criteria for classic Rett syndrome (loss of acquired purposeful hand skills, loss of acquired spoken language, gait abnormalities, stereotypic hand movements), a period of regression followed by recovery or stabilization, and five out of eleven supportive criteria (breathing difficulties, bruxism, impaired sleep pattern, abnormal muscle tone, peripheral vasomotor disturbances, scoliosis/kyphosis, delayed growth, small cold hands and feet, inappropriate laughter or screaming spells, decreased pain sensation, and intense eye communication). Like classic Rett syndrome, it almost exclusively affects girls, while the disease course may be either milder or more severe. Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Cutis laxa, x-linked Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability due to GRIA3 mutations Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic muscular dystrophy disease with characteristics of the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging. Caused by mutation in the FHL1 gene. Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hyperekplexia epilepsy syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked dominant chondrodysplasia punctata of Happle Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Partial androgen insensitivity syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Focal dermal hypoplasia Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked Ehlers-Danlos syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Pelizaeus-Merzbacher disease Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Fragile X syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Lowe syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Aicardi's syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Blue cone monochromatism (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked progressive cerebellar ataxia (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial x-linked hypophosphatemic vitamin D refractory rickets Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked asexual dwarfism (disorder) Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked hypodontia (disorder) Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked oligodontia (disorder) Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked congenital generalized hypertrichosis Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability hypotonic face syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked complex hereditary spastic paraplegia Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked pure hereditary spastic paraplegia Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked Emery-Dreifuss muscular dystrophy Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked distal hereditary motor neuropathy Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked thrombocytopenia with normal platelets (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked recessive hereditary disease Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked dominant hereditary disease (disorder) Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked sensorineural hearing loss Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked excess of thyroxine-binding globulin Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked reduction of thyroxine-binding globulin Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked absence of thyroxine-binding globulin Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked retinitis pigmentosa Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked variant form of thyroxine-binding globulin Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked panhypopituitarism Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hypoparathyroidism - X-linked Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
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 X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked optic atrophy Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Adrenoleukodystrophy Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder) Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked hereditary vasopressin resistance Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)

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