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128430005: X-linked hereditary disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
206738018 X-linked hereditary disease en Synonym Active Entire term case sensitive SNOMED CT core module
732421011 X-linked hereditary disease (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

366 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 Existential restriction modifier
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
X-linked lethal multiple pterygium syndrome Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Intellectual disability, alacrima, achalasia syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Fragile X associated tremor ataxia syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Agenesis of corpus callosum and abnormal genitalia syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 1 Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Xq12-q13.3 duplication syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked agammaglobulinemia with growth hormone deficiency Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked muscular dystrophy with limb girdle distribution Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X chromosome-linked sideroblastic anemia Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
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
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked non progressive cerebellar ataxia Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked cleft palate and ankyloglossia Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked distal spinal muscular atrophy type 3 Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Otopalatodigital syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked spondyloepimetaphyseal dysplasia Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked cerebral, cerebellar, coloboma syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked parkinsonism with spasticity syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Spinal muscular atrophy with respiratory distress type 2 Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Infantile epileptic dyskinetic encephalopathy Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Absent radius, anogenital anomalies syndrome Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Severe neonatal onset encephalopathy with microcephaly Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Ogden syndrome Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Solute carrier family 35 member A2 congenital disorder of glycosylation Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked central congenital hypothyroidism with late-onset testicular enlargement Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability, craniofacioskeletal syndrome Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia Bieganski type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Spondylometaphyseal dysplasia Golden type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
CK syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Contiguous ABCD1 DXS1357E deletion syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Distal Xq28 microduplication syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked myopathy with postural muscle atrophy Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Familial infantile gigantism Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked acrogigantism Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Ferro-cerebro-cutaneous syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Brachytelephalangic chondrodysplasia punctata Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Bulbospinal neuronopathy Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked osteoporosis with fractures Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Xp22.13p22.2 duplication syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Male emopamil-binding protein disorder with neurological defect Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked calvarial hyperostosis Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Atypical Rett syndrome Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Cutis laxa, x-linked Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Otopalatodigital syndrome spectrum disorder Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked scapuloperoneal muscular dystrophy Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Hyperekplexia epilepsy syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked dominant chondrodysplasia punctata of Happle Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Partial androgen insensitivity syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Focal dermal hypoplasia Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome, type 5 Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Pelizaeus-Merzbacher disease Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Fragile X syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Lowe syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Aicardi's syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Blue cone monochromatism Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked progressive cerebellar ataxia Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Familial x-linked hypophosphatemic vitamin D refractory rickets Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked asexual dwarfism Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked hypodontia Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked oligodontia Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked congenital generalized hypertrichosis Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability hypotonic face syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked complex hereditary spastic paraplegia Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked pure hereditary spastic paraplegia Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked Emery-Dreifuss muscular dystrophy Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked distal hereditary motor neuropathy Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked thrombocytopenia with normal platelets Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked recessive hereditary disease Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked dominant hereditary disease Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
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
X-linked sensorineural hearing loss Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked excess of thyroxine-binding globulin Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked reduction of thyroxine-binding globulin Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked absence of thyroxine-binding globulin Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked retinitis pigmentosa Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked variant form of thyroxine-binding globulin Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked panhypopituitarism Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked hypoparathyroidism Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Xq25 microduplication syndrome Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked optic atrophy Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Dent's disease Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Oculofaciocardiodental syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier

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