X-linked hereditary disease
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X-linked recessive hereditary disease (disorder)
X-linked recessive hereditary disease
X-gebonden hereditaire recessieve aandoening
X-gebonden erfelijke recessieve ziekte
Id1162976004
StatusPrimitive
ICD-10 complex map reference set
Target
RuleTRUE
AdviceMAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
CorrelationSNOMED CT source code to target map code correlation not specified
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3-Methylglutaconic aciduria type 2
Abruzzo Erickson syndrome
Agenesis of corpus callosum and abnormal genitalia syndrome
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
Aland Islands eye disease
Albinism with deafness syndrome
Allan-Herndon-Dudley syndrome
Alpha thalassemia X-linked intellectual disability syndrome
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome
Arts syndrome
Atrophia bulborum hereditaria
Beta thalassemia X-linked thrombocytopenia syndrome
Blue cone monochromatism
Borjeson-Forssman-Lehmann syndrome
Brachytelephalangic chondrodysplasia punctata
Brunner syndrome
Bulbospinal neuronopathy
Bullous dystrophy macular type
Cerebellum agenesis with hydrocephaly
Chondrodysplasia punctata, X-linked recessive type
Choroideremia3
Christianson syndrome
Chromosome Xp11.3 microdeletion syndrome
Chromosome Xq27.3q28 duplication syndrome
CK syndrome
Combined immunodeficiency due to moesin deficiency
Congenital adrenal hypoplasia, X-linked
Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type 1y
Contiguous ABCD1 DXS1357E deletion syndrome
Cutis laxa, x-linked
Danon disease
Deafness and hypogonadism syndrome
Deafness and intellectual disability Martin Probst type syndrome
Deafness-dystonia-optic neuronopathy syndrome
Dent's disease3
Distal Xq28 microduplication syndrome
Early onset parkinsonism and intellectual disability syndrome
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome
Ehlers-Danlos syndrome, type 5
Ferro-cerebro-cutaneous syndrome
FLNA-related X-linked myxomatous valvular dysplasia
FRAXE intellectual disability syndrome
Fried syndrome
Glycogen storage disease due to muscle phosphorylase kinase deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Hoyeraal-Hreidarsson syndrome
Hydrocephalus with obesity and hypogonadism syndrome
Hyperekplexia epilepsy syndrome
Infantile epileptic dyskinetic encephalopathy
Intellectual disability, alacrima, achalasia syndrome
Intellectual disability, developmental delay, contracture syndrome
Isolated congenital megalocornea
Juberg Marsidi syndrome
Juvenile retinoschisis
Keratosis follicularis, dwarfism, cerebral atrophy syndrome
L1 syndrome2
Laryngeal abductor paralysis with intellectual disability syndrome
Lenz microphthalmia syndrome
Lesch-Nyhan syndrome
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
Lowe syndrome
Macrocephaly, intellectual disability, left ventricular non compaction syndrome
Male emopamil-binding protein disorder with neurological defect
McLeod neuroacanthocytosis syndrome
MEHMO syndrome
Menkes kinky-hair syndrome
Microphthalmia with ankyloblepharon and intellectual disability syndrome
Morse Rawnsley Sargent syndrome
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome
Mucopolysaccharidosis, MPS-II2
Multiple congenital anomalies, hypotonia, seizures syndrome type 2
N syndrome
Nephrogenic syndrome of inappropriate antidiuresis
Ocular albinism with late-onset sensorineural deafness
Ocular albinism, type I
Oro-facial digital syndrome type 8
Pallister W syndrome
Partial androgen insensitivity syndrome1
Partington syndrome
Pelizaeus-Merzbacher disease in female carrier
Pelizaeus-Merzbacher disease null syndrome
Pelizaeus-Merzbacher disease, classic form
Pelizaeus-Merzbacher disease, connatal variant
Pettigrew syndrome
Phosphoribosylpyrophosphate synthetase superactivity
Pierre Robin sequence faciodigital anomaly syndrome
Prieto Badia Mulas syndrome
Primary ciliary dyskinesia and retinitis pigmentosa syndrome
Renpenning syndrome
SCARF syndrome
Scholte syndrome
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome
Severe neonatal onset encephalopathy with microcephaly
Severe X-linked intellectual disability Gustavson type
Severe X-linked mitochondrial encephalomyopathy
Severe X-linked myotubular myopathy
Simpson-Golabi-Behmel syndrome
Skeletal dysplasia with intellectual disability syndrome
Snyder-Robinson syndrome
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
Spondylometaphyseal dysplasia Golden type
Syndromic X-linked intellectual disability due to JARID1C mutation
Syndromic X-linked intellectual disability type 11
Syndromic X-linked intellectual disability type 7
T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency
TARP syndrome
Trichodysplasia with amelogenesis imperfecta syndrome
Type III transitional Pelizaeus-Merzbacher disease
X chromosome-linked sideroblastic anemia3
X-linked agammaglobulinemia with growth hormone deficiency
X-linked calvarial hyperostosis
X-linked central congenital hypothyroidism with late-onset testicular enlargement
X-linked cerebral, cerebellar, coloboma syndrome
X-linked Charcot-Marie-Tooth disease type 2
X-linked Charcot-Marie-Tooth disease type 3
X-linked Charcot-Marie-Tooth disease type 4
X-linked Charcot-Marie-Tooth disease type 5
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
X-linked cone dysfunction syndrome with myopia
X-linked congenital dyserythropoietic anemia with thrombocytopenia
X-linked corneal dermoid
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
X-linked dystonia parkinsonism
X-linked Emery-Dreifuss muscular dystrophy
X-linked endothelial corneal dystrophy
X-linked epilepsy with learning disability and behavior disorder syndrome
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked hydrocephalus syndrome
X-linked hyper-IgM syndrome1
X-linked ichthyosis with steryl-sulfatase deficiency1
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked intellectual disability Abidi type
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome
X-linked intellectual disability Armfield type
X-linked intellectual disability Cabezas type
X-linked intellectual disability Cantagrel type
X-linked intellectual disability Cilliers type
X-linked intellectual disability due to GRIA3 mutations
X-linked intellectual disability Hedera type
X-linked intellectual disability hypotonic face syndrome
X-linked intellectual disability Miles Carpenter type
X-linked intellectual disability Nascimento type
X-linked intellectual disability Pai type
X-linked intellectual disability Schimke type
X-linked intellectual disability Seemanova type
X-linked intellectual disability Shrimpton type
X-linked intellectual disability Siderius type
X-linked intellectual disability Stevenson type
X-linked intellectual disability Stocco Dos Santos type
X-linked intellectual disability Stoll type
X-linked intellectual disability Van Esch type
X-linked intellectual disability with acromegaly and hyperactivity syndrome
X-linked intellectual disability with ataxia and apraxia syndrome
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome
X-linked intellectual disability with marfanoid habitus
X-linked intellectual disability with plagiocephaly syndrome
X-linked intellectual disability with seizure and psoriasis syndrome
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
X-linked intellectual disability, macrocephaly, macroorchidism syndrome
X-linked lissencephaly with abnormal genitalia syndrome
X-linked lymphoproliferative syndrome4
X-linked mandibulofacial dysostosis
X-linked mendelian susceptibility to mycobacterial disease
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
X-linked myopathy with excessive autophagy
X-linked myopathy with postural muscle atrophy
X-linked neurodegenerative syndrome Bertini type
X-linked neurodegenerative syndrome Hamel type
X-linked non progressive cerebellar ataxia
X-linked osteoporosis with fractures
X-linked parkinsonism with spasticity syndrome
X-linked progressive cerebellar ataxia
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
X-linked recessive sensory neuropathy
X-linked retinal dysplasia
X-linked severe congenital neutropenia
X-linked spastic paraplegia type 16
X-linked spastic paraplegia type 2
X-linked spastic paraplegia type 34
X-linked spasticity, intellectual disability, epilepsy syndrome
X-linked spinocerebellar ataxia type 3
X-linked spinocerebellar ataxia type 4
X-linked spondyloepimetaphyseal dysplasia
X-linked thrombocytopenia with normal platelets
Xp22.13p22.2 duplication syndrome
Xq12-q13.3 duplication syndrome