128430005: X-gebonden hereditaire aandoening (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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	False	X-linked hereditary disease	Inferred relationship	Some
Ocular albinism, type II	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Atrophia bulborum hereditaria	Is a	False	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	False	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	False	X-linked hereditary disease	Inferred relationship	Some
hereditaire nefrogene diabetes insipidus (aandoening)	Is a	False	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	False	X-linked hereditary disease	Inferred relationship	Some
X-linked hydrocephalus syndrome	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked ichthyosis with steryl-sulfatase deficiency	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked lymphoproliferative syndrome	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Ocular albinism, type I	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Glycogen storage disease, type VI	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Congenital adrenal hypoplasia, X-linked	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Danon disease	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability with marfanoid habitus (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Simpson-Golabi-Behmel syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Lenz microphthalmia syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Dent's disease (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Nance-Horan syndrome (disorder)	Is a	False	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	False	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	False	X-linked hereditary disease	Inferred relationship	Some
Renpenning syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Christianson syndrome	Is a	False	X-linked hereditary disease	Inferred relationship	Some
PPM-X syndrome	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Partington syndrome	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Snyder-Robinson syndrome	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Is a	False	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	False	X-linked hereditary disease	Inferred relationship	Some
MECP2 duplication syndrome	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)	Is a	False	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	False	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	False	X-linked hereditary disease	Inferred relationship	Some
3-Methylglutaconic aciduria type 2	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	Is a	False	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	False	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	False	X-linked hereditary disease	Inferred relationship	Some
Alpha thalassemia X-linked intellectual disability syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
choroïderemie gelijktijdig met hypopituïtarisme (aandoening)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Craniofrontonasal dysplasia (disorder)	Is a	False	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	False	X-linked hereditary disease	Inferred relationship	Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked lissencephaly with abnormal genitalia syndrome	Is a	False	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	False	X-linked hereditary disease	Inferred relationship	Some
L1 syndrome	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Beta thalassemia X-linked thrombocytopenia syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Deficiency of monoamine oxidase A (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Early onset parkinsonism and intellectual disability syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Abruzzo Erickson syndrome	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability Atkin type (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked endothelial dystrophy of cornea (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked cone dysfunction syndrome with myopia (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability with ataxia and apraxia syndrome (disorder)	Is a	False	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	False	X-linked hereditary disease	Inferred relationship	Some
Fried syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked neurodegenerative syndrome Bertini type (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Chromosome Xq27.3q28 duplication syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked severe congenital neutropenia (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability Seemanova type (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Syndromic X-linked intellectual disability type 11 (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability Shrimpton type	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability Siderius type (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability Stevenson type (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability Stocco Dos Santos type (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability Stoll type (disorder)	Is a	False	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	False	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	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability Pai type (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability Miles Carpenter type (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability Cilliers type (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability Cantagrel type (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability Armfield type (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability Abidi type (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Pallister W syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Carpenter-Waziri-syndroom	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-gebonden syndroom van verstandelijke beperking, agenesie van corpus callosum en spastische tetraparese (aandoening)	Is a	False	X-linked hereditary disease	Inferred relationship	Some

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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
6169611000146110	X-gebonden hereditaire ziekte	nl	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6169621000146117	X-gebonden hereditaire ziekte (aandoening)	nl	Fully specified name	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6169631000146115	X-gebonden erfelijke aandoening	nl	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6169641000146111	X-gebonden genetische aandoening	nl	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13302911000146114	X-gebonden erfelijke ziekte	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13302921000146116	X-gebonden hereditaire aandoening	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13302931000146119	X-gebonden hereditaire aandoening (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)