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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

361 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked hereditary disease est un(e) (attribut) Sex-linked hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Arts syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
dysplasie spondylo-épiphysaire tardive (trouble) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Adolescent X-linked adrenoleukodystrophy (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked dyskeratosis congenita (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
Childhood cerebral X-linked adrenoleukodystrophy est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
3-Methylglutaconic aciduria type 2 est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked corneal dermoid (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Lissencephaly type 1 due to doublecortin gene mutation (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked retinal dysplasia (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Alpha thalassemia X-linked intellectual disability syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Choroideremia co-occurrent with hypopituitarism (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
dysplasie cranio-fronto-nasale est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
microcéphalie-microcornée type Seemanova est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
Cerebellum agenesis with hydrocephaly est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Female restricted epilepsy with intellectual disability syndrome (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
FRAXE intellectual disability syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Beta thalassemia X-linked thrombocytopenia syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Deficiency of monoamine oxidase A (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Early onset parkinsonism and intellectual disability syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Abruzzo Erickson syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Atkin type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked endothelial dystrophy of cornea (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Deafness and hypogonadism syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked cone dysfunction syndrome with myopia (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Zorick type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked neurodegenerative syndrome Hamel type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Fried syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked neurodegenerative syndrome Bertini type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Chromosome Xq27.3q28 duplication syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked severe congenital neutropenia (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Seemanova type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Syndromic X-linked intellectual disability type 11 (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Shrimpton type est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Siderius type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Stevenson type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Stocco Dos Santos type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Stoll type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Turner type (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Van Esch type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Wilson type (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Schimke type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Pai type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Miles Carpenter type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Cilliers type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Cantagrel type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Armfield type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Abidi type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Pallister W syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Carpenter Waziri syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
syndrome de déficience intellectuelle liée à l'X-dysmorphie-atrophie cérébrale est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Syndromic X-linked intellectual disability type 7 (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Smith Fineman Myers syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Chromosome Xp11.3 microdeletion syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability with precocious puberty and obesity syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
syndrome de déficience intellectuelle liée à l'X-épilepsie-psoriasis est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Cabezas type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked mandibulofacial dysostosis (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked mendelian susceptibility to mycobacterial disease (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked myopathy with excessive autophagy (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked sideroblastic anemia with spinocerebellar ataxia est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked spinocerebellar ataxia type 3 (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked spinocerebellar ataxia type 4 (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
syndrome immuno-neurologique lié à l'X est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Wilson Turner syndrome (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked distal arthrogryposis multiplex congenita (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
chondrodysplasie dominante liée à l'X type Chassaing-Lacombe est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Alport syndrome X-linked (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
neuropathie héréditaire sensitive et autonomique liée à l'X avec surdité est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Ataxia with deafness and intellectual disability syndrome (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
Ehlers-Danlos syndrome with periventricular heterotopia (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Chudley Lowry Hoar syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some

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