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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 Reference Sets
206738018 X-linked hereditary disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
732421011 X-linked hereditary disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
2082981000005115 X-bundet hereditær sygdom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept) Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

330 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
Lesch-Nyhan syndrome Is a True X-linked hereditary disease Inferred relationship Some
okulær albinisme, type II Is a False X-linked hereditary disease Inferred relationship Some
Atrophia bulborum hereditaria Is a True X-linked hereditary disease Inferred relationship Some
Fabry's disease Is a True X-linked hereditary disease Inferred relationship Some
Borjeson-Forssman-Lehmann syndrome Is a True X-linked hereditary disease Inferred relationship Some
Hereditary factor VIII deficiency disease Is a True X-linked hereditary disease Inferred relationship Some
Placental sulfatase deficiency Is a True X-linked hereditary disease Inferred relationship Some
Hereditary factor IX deficiency disease Is a True X-linked hereditary disease Inferred relationship Some
Menkes kinky-hair syndrome Is a True X-linked hereditary disease Inferred relationship Some
Hereditary nephrogenic diabetes insipidus Is a True X-linked hereditary disease Inferred relationship Some
Glucose-6-phosphate dehydrogenase deficiency anemia Is a True X-linked hereditary disease Inferred relationship Some
X-linked agammaglobulinemia Is a True X-linked hereditary disease Inferred relationship Some
Mucopolysaccharidosis, MPS-II Is a True X-linked hereditary disease Inferred relationship Some
X-linked hydrocephalus syndrome Is a True X-linked hereditary disease Inferred relationship Some
X-linked ichthyosis with steryl-sulfatase deficiency Is a True X-linked hereditary disease Inferred relationship Some
X-linked lymphoproliferative syndrome Is a True X-linked hereditary disease Inferred relationship Some
Ocular albinism, type I Is a True X-linked hereditary disease Inferred relationship Some
Glycogen storage disease, type VI Is a True X-linked hereditary disease Inferred relationship Some
Congenital adrenal hypoplasia, X-linked Is a True X-linked hereditary disease Inferred relationship Some
Danon disease (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability with marfanoid habitus (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Simpson-Golabi-Behmel syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Lenz microphthalmia syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Dent's disease (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Nance-Horan syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked periventricular heterotopia (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked dystonia parkinsonism Is a True X-linked hereditary disease Inferred relationship Some
X-linked creatine deficiency Is a True X-linked hereditary disease Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Is a True X-linked hereditary disease Inferred relationship Some
Oculofaciocardiodental syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Renpenning syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a True X-linked hereditary disease Inferred relationship Some
Christianson syndrome Is a True X-linked hereditary disease Inferred relationship Some
PPM-X syndrome Is a True X-linked hereditary disease Inferred relationship Some
Partington syndrome Is a True X-linked hereditary disease Inferred relationship Some
Snyder-Robinson syndrome Is a True X-linked hereditary disease Inferred relationship Some
Deafness-dystonia-optic neuronopathy syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Dilated cardiomyopathy 3B (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Arts syndrome Is a True X-linked hereditary disease Inferred relationship Some
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Spondyloepiphyseal dysplasia tarda Is a False X-linked hereditary disease Inferred relationship Some
Adolescent X-linked adrenoleukodystrophy (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked dyskeratosis congenita (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Childhood cerebral X-linked adrenoleukodystrophy Is a True X-linked hereditary disease Inferred relationship Some
3-Methylglutaconic aciduria type 2 Is a True X-linked hereditary disease Inferred relationship Some
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Is a True X-linked hereditary disease Inferred relationship Some
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked corneal dermoid (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Lissencephaly type 1 due to doublecortin gene mutation (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked retinal dysplasia (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Alpha thalassemia X-linked intellectual disability syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Choroideremia co-occurrent with hypopituitarism Is a False X-linked hereditary disease Inferred relationship Some
Craniofrontonasal dysplasia (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Microcephalus microcornea syndrome of Seemanova type (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Cerebellum agenesis with hydrocephaly Is a True X-linked hereditary disease Inferred relationship Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome Is a True X-linked hereditary disease Inferred relationship Some
Female restricted epilepsy with intellectual disability syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
FRAXE intellectual disability syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Beta thalassemia X-linked thrombocytopenia syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Deficiency of monoamine oxidase A (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Early onset parkinsonism and intellectual disability syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Abruzzo Erickson syndrome Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Atkin type (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked endothelial dystrophy of cornea (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Deafness and hypogonadism syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked cone dysfunction syndrome with myopia (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Zorick type Is a False X-linked hereditary disease Inferred relationship Some
X-linked neurodegenerative syndrome Hamel type (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Fried syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked neurodegenerative syndrome Bertini type (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Chromosome Xq27.3q28 duplication syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked severe congenital neutropenia (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Seemanova type (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Syndromic X-linked intellectual disability type 11 (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Shrimpton type Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Siderius type (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Stevenson type (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Stocco Dos Santos type (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Stoll type (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Turner type (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Van Esch type (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Wilson type (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Schimke type (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Pai type (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Miles Carpenter type (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Cilliers type (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Cantagrel type (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Armfield type (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Abidi type (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Pallister W syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
Carpenter Waziri syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome Is a False X-linked hereditary disease Inferred relationship Some

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Reference Sets

Danish translated concepts reference set (foundation metadata concept)

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