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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

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
X-linked hereditary motor and sensory neuropathy Is a True X-linked hereditary disease Inferred relationship Some
X-linked lethal multiple pterygium syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Intellectual disability, alacrima, achalasia syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Fragile X associated tremor ataxia syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Agenesis of corpus callosum and abnormal genitalia syndrome Is a False X-linked hereditary disease Inferred relationship Some
Oro-facial digital syndrome type 1 (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Xq12-q13.3 duplication syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Some
X-linked agammaglobulinemia with growth hormone deficiency Is a False X-linked hereditary disease Inferred relationship Some
X-linked muscular dystrophy with limb girdle distribution Is a True X-linked hereditary disease Inferred relationship Some
X chromosome-linked sideroblastic anemia Is a False X-linked hereditary disease Inferred relationship Some
T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked non progressive cerebellar ataxia (disorder) Is a False X-linked hereditary disease Inferred relationship Some
X-linked cleft palate and ankyloglossia Is a True X-linked hereditary disease Inferred relationship Some
X-linked distal spinal muscular atrophy type 3 (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Otopalatodigital syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked spondyloepimetaphyseal dysplasia (disorder) Is a False X-linked hereditary disease Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Some
X-linked parkinsonism with spasticity syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Spinal muscular atrophy with respiratory distress type 2 Is a False X-linked hereditary disease Inferred relationship Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Infantile epileptic dyskinetic encephalopathy (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Absent radius, anogenital anomalies syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Severe neonatal onset encephalopathy with microcephaly (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Ogden syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability, craniofacioskeletal syndrome Is a True X-linked hereditary disease Inferred relationship Some
Spondyloepimetaphyseal dysplasia Bieganski type Is a False X-linked hereditary disease Inferred relationship Some
Spondylometaphyseal dysplasia Golden type (disorder) Is a False X-linked hereditary disease Inferred relationship Some
CK syndrome Is a False X-linked hereditary disease Inferred relationship Some
Contiguous ABCD1 DXS1357E deletion syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Distal Xq28 microduplication syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Some
X-linked myopathy with postural muscle atrophy (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Is a False X-linked hereditary disease Inferred relationship Some
Familial infantile gigantism (disorder) Is a False X-linked hereditary disease Inferred relationship Some
X-linked acrogigantism Is a False X-linked hereditary disease Inferred relationship Some
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Ferro-cerebro-cutaneous syndrome Is a False X-linked hereditary disease Inferred relationship Some
Brachytelephalangic chondrodysplasia punctata (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Bulbospinal neuronopathy Is a False X-linked hereditary disease Inferred relationship Some
X-linked osteoporosis with fractures Is a False X-linked hereditary disease Inferred relationship Some
Xp22.13p22.2 duplication syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Male emopamil-binding protein disorder with neurological defect Is a False X-linked hereditary disease Inferred relationship Some
X-linked calvarial hyperostosis Is a False X-linked hereditary disease Inferred relationship Some
Atypical Rett syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Cutis laxa, x-linked Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability due to GRIA3 mutations Is a False X-linked hereditary disease Inferred relationship Some
Otopalatodigital syndrome spectrum disorder Is a False X-linked hereditary disease Inferred relationship Some
X-linked scapuloperoneal muscular dystrophy (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Hyperekplexia epilepsy syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Some
X-linked dominant chondrodysplasia punctata of Happle Is a False X-linked hereditary disease Inferred relationship Some
Partial androgen insensitivity syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Some
Focal dermal hypoplasia Is a False X-linked hereditary disease Inferred relationship Some
X-linked Ehlers-Danlos syndrome Is a False X-linked hereditary disease Inferred relationship Some
Pelizaeus-Merzbacher disease (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Fragile X syndrome Is a False X-linked hereditary disease Inferred relationship Some
Lowe syndrome Is a False X-linked hereditary disease Inferred relationship Some
Aicardi's syndrome Is a False X-linked hereditary disease Inferred relationship Some
Blue cone monochromatism (disorder) Is a False X-linked hereditary disease Inferred relationship Some
X-linked progressive cerebellar ataxia Is a False X-linked hereditary disease Inferred relationship Some
Familial x-linked hypophosphatemic vitamin D refractory rickets Is a True X-linked hereditary disease Inferred relationship Some
X-linked asexual dwarfism Is a True X-linked hereditary disease Inferred relationship Some
X-linked hypodontia (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked oligodontia (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked congenital generalized hypertrichosis Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability hypotonic face syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked complex hereditary spastic paraplegia Is a False X-linked hereditary disease Inferred relationship Some
X-linked pure hereditary spastic paraplegia Is a False X-linked hereditary disease Inferred relationship Some
X-linked Emery-Dreifuss muscular dystrophy Is a False X-linked hereditary disease Inferred relationship Some
X-linked distal hereditary motor neuropathy Is a True X-linked hereditary disease Inferred relationship Some
X-linked thrombocytopenia with normal platelets (disorder) Is a False X-linked hereditary disease Inferred relationship Some
X-linked recessive hereditary disease Is a True X-linked hereditary disease Inferred relationship Some
X-linked dominant hereditary disease (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Is a True X-linked hereditary disease Inferred relationship Some
X-linked sensorineural hearing loss Is a True X-linked hereditary disease Inferred relationship Some
X-linked excess of thyroxine-binding globulin Is a True X-linked hereditary disease Inferred relationship Some
X-linked reduction of thyroxine-binding globulin Is a True X-linked hereditary disease Inferred relationship Some
X-linked absence of thyroxine-binding globulin Is a True X-linked hereditary disease Inferred relationship Some
X-linked retinitis pigmentosa Is a True X-linked hereditary disease Inferred relationship Some
X-linked variant form of thyroxine-binding globulin Is a True X-linked hereditary disease Inferred relationship Some
X-linked panhypopituitarism (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked hypoparathyroidism (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Xq25 microduplication syndrome Is a True X-linked hereditary disease Inferred relationship Some
X-linked optic atrophy Is a True X-linked hereditary disease Inferred relationship Some
Adrenoleukodystrophy Is a True X-linked hereditary disease Inferred relationship Some
Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked hereditary vasopressin resistance Is a True X-linked hereditary disease Inferred relationship Some

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