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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 intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Syndromic X-linked intellectual disability type 7 Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Smith Fineman Myers syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Primary ciliary dyskinesia and retinitis pigmentosa syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Chromosome Xp11.3 microdeletion syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability with precocious puberty and obesity syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability with seizure and psoriasis syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Cabezas type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability with plagiocephaly syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked mandibulofacial dysostosis Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked mendelian susceptibility to mycobacterial disease Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked myopathy with excessive autophagy Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked sideroblastic anemia with spinocerebellar ataxia Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked spinocerebellar ataxia type 3 Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked spinocerebellar ataxia type 4 Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability, macrocephaly, macroorchidism syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability with acromegaly and hyperactivity syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked immunoneurologic disorder Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Wilson Turner syndrome Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked distal arthrogryposis multiplex congenita Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked dominant chondrodysplasia Chassaing Lacombe type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Trichodysplasia with amelogenesis imperfecta syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Alport syndrome X-linked Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked hereditary sensory and autonomic neuropathy with deafness Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Ataxia with deafness and intellectual disability syndrome Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome with periventricular heterotopia Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Choroideremia with deafness and obesity syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Chudley Lowry Hoar syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Deafness and intellectual disability Martin Probst type syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Holmes Gang syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Hydrocephalus with obesity and hypogonadism syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Juberg Marsidi syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Microphthalmia with linear skin defect syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Intellectual disability, balding, patella luxation, acromicria syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Oto-palato-digital syndrome, type II Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Oto-palato-digital syndrome, type I Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Ocular albinism with late-onset sensorineural deafness Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Albinism with deafness syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Intellectual disability, developmental delay, contracture syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Skeletal dysplasia with intellectual disability syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Early-onset X-linked optic atrophy Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 8 Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Severe X-linked mitochondrial encephalomyopathy Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Severe X-linked intellectual disability Gustavson type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked congenital dyserythropoietic anemia with thrombocytopenia Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
N syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Terminal osseous dysplasia and pigmentary defect syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Syndactyly, telecanthus, anogenital and renal malformation syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked spastic paraplegia type 2 Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Simpson Golabi Behmel syndrome type 2 Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Nephrogenic syndrome of inappropriate antidiuresis Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Phosphoribosylpyrophosphate synthetase superactivity Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Pierre Robin sequence faciodigital anomaly syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Renier Gabreels Jasper syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Keratosis follicularis, dwarfism, cerebral atrophy syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
McLeod neuroacanthocytosis syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Lisch epithelial corneal dystrophy Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Laryngeal abductor paralysis with intellectual disability syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked spasticity, intellectual disability, epilepsy syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Aland Islands eye disease Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Hypohidrotic X-linked ectodermal dysplasia Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked muscular dystrophy not predominantly limb girdle Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Bullous dystrophy macular type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Pierre Robin sequence, congenital heart defect, talipes syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Brooks type Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked hereditary spastic paraplegia Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Hedera type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Nascimento type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Chromosome Xp22.3 microdeletion syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Beta-propeller protein-associated neurodegeneration Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked hyper-immunoglobulin M syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1s Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Choroideremia Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Skeletal dysplasia brachydactyly syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1y Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Isolated congenital megalocornea Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
2-methyl-3-hydroxybutyric aciduria Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Incontinentia pigmenti syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Oculo-palato-digital syndrome Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Adrenomyodystrophy Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked hereditary motor and sensory neuropathy Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier

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