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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
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 Only initial character case insensitive (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

391 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 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Lesch-Nyhan syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Ocular albinism, type II Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Atrophia bulborum hereditaria Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Fabry's disease Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Borjeson-Forssman-Lehmann syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hemophilia A Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Placental sulphatase deficiency Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary factor IX deficiency disease (disorder) Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Menkes kinky-hair syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
diabète insipide néphrogénique héréditaire Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Glucose-6-phosphate dehydrogenase deficiency anemia Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked agammaglobulinaemia Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis, MPS-II Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked hydrocephalus syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked ichthyosis with steryl-sulphatase deficiency Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked lymphoproliferative syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Ocular albinism, type I Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease, type VI Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital adrenal hypoplasia, X-linked (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with marfanoid habitus (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Simpson-Golabi-Behmel syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Lenz microphthalmia syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Dent's disease (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Nance-Horan syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked periventricular heterotopia (disorder) Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked dystonia parkinsonism (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked creatine deficiency (disorder) Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Ohdo syndrome, Maat-Kievit-Brunner type Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Oculofaciocardiodental syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Renpenning syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual developmental disorder Christianson type (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
PPM-X syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual deficit-dystonia-dysarthria syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Snyder-Robinson syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Deafness-dystonia-optic neuronopathy syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Dilated cardiomyopathy 3B (disorder) Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Fatal X-linked ataxia with deafness and loss of vision (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
CASK related intellectual disability Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia tarda Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Adolescent X-linked adrenoleukodystrophy Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked dyskeratosis congenita (disorder) Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Childhood cerebral X-linked adrenoleukodystrophy (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
3-Methylglutaconic aciduria type 2 (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder) Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked corneal dermoid (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients. Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked retinal dysplasia (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Alpha thalassemia X-linked intellectual disability syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Choroideremia co-occurrent with hypopituitarism Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet. Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus microcornea syndrome of Seemanova type (disorder) Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of cerebellum and hydrocephalus syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterised by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localised to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Female restricted epilepsy with intellectual disability syndrome (disorder) Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
FRAXE intellectual disability syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
L1 syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Beta thalassemia X-linked thrombocytopenia syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of monoamine oxidase A (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients. Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Abruzzo Erickson syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Atkin type (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Deafness and hypogonadism syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked cone dysfunction syndrome with myopia (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with ataxia and apraxia syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Zorick type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
An X-linked syndromic intellectual disability characterised by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death. Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Fried syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked neurodegenerative syndrome Bertini type (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome Xq27.3q28 duplication syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked severe congenital neutropenia (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, Seemanova type is characterized by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability type 11 (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Shrimpton type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Siderius type (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Stevenson type (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Stocco Dos Santos type (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Stoll type (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Turner type (disorder) Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Van Esch type (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Wilson type (disorder) Is a True X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Schimke type (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Pai type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Miles Carpenter type (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Cilliers type (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Cantagrel type Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Armfield type (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Abidi type (disorder) Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Pallister W syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Carpenter Waziri syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with cerebellar hypoplasia syndrome Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de déficience intellectuelle liée à l'X-agénésie du corps calleux-quadriparésie spastique Is a False X-linked hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)

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