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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
Lesch-Nyhan syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Ocular albinism, type II Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Atrophia bulborum hereditaria Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Fabry's disease Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Borjeson-Forssman-Lehmann syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Hereditary factor VIII deficiency disease Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Placental sulfatase deficiency Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Hereditary factor IX deficiency disease Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Menkes kinky-hair syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Hereditary nephrogenic diabetes insipidus Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Glucose-6-phosphate dehydrogenase deficiency anemia Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked agammaglobulinemia Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Mucopolysaccharidosis type II Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked hydrocephalus syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked ichthyosis with steryl-sulfatase deficiency Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked lymphoproliferative syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Ocular albinism, type I Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Glycogen storage disease, type VI Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Congenital adrenal hypoplasia, X-linked Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Danon disease Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability with marfanoid habitus Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Simpson-Golabi-Behmel syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Lenz microphthalmia syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Dent's disease Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Nance-Horan syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked periventricular heterotopia Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked dystonia parkinsonism Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked creatine deficiency Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Oculofaciocardiodental syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Renpenning syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Monocarboxylate transporter 8 deficiency Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual developmental disorder Christianson type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability-psychosis-macroorchidism syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual deficit-dystonia-dysarthria syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Snyder type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Deafness-dystonia-optic neuronopathy syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Dilated cardiomyopathy 3B Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Fatal X-linked ataxia with deafness and loss of vision Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Calcium/calmodulin-dependent serine protein kinase related intellectual disability Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia tarda Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Adolescent X-linked adrenoleukodystrophy Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked dyskeratosis congenita Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Childhood cerebral X-linked adrenoleukodystrophy Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
3-Methylglutaconic aciduria type 2 Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked corneal dermoid Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Lissencephaly type 1 due to doublecortin gene mutation Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked retinal dysplasia Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Alpha thalassemia X-linked intellectual disability syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Choroideremia co-occurrent with hypopituitarism Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Craniofrontonasal dysplasia Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Microcephalus microcornea syndrome of Seemanova type Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
Agenesis of cerebellum and hydrocephalus syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Microphthalmia with ankyloblepharon and intellectual disability syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked epilepsy with learning disability and behavior disorder syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked reticulate pigmentary disorder with systemic manifestation syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Female restricted epilepsy with intellectual disability syndrome Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
FRAXE intellectual disability syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Beta thalassemia X-linked thrombocytopenia syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Deficiency of monoamine oxidase A Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Early onset parkinsonism and intellectual disability syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Cleft palate with coloboma of eye and deafness syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Atkin type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked endothelial dystrophy of cornea Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Deafness and hypogonadism syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked cone dysfunction syndrome with myopia Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability with ataxia and apraxia syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Zorick type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked neurodegenerative syndrome Hamel type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Fried syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked neurodegenerative syndrome Bertini type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Chromosome Xq27.3q28 duplication syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked severe congenital neutropenia Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Seemanova type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Syndromic X-linked intellectual disability type 11 Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Shrimpton type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Siderius type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Stevenson type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Stocco Dos Santos type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Stoll type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Turner type Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Van Esch type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Wilson type Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Schimke type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Pai type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Miles Carpenter type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Cilliers type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Cantagrel type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Armfield type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Abidi type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Pallister W syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
Carpenter Waziri syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability with cerebellar hypoplasia syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier

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