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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

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

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