FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

128430005: X-linked hereditary disease (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
206738018 X-linked hereditary disease en Synonym Active Case sensitive SNOMED CT core
732421011 X-linked hereditary disease (disorder) en Fully specified name Active Case sensitive SNOMED CT core

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 Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Deafness-dystonia-optic neuronopathy syndrome Is a False X-linked hereditary disease Inferred relationship Some
Dilated cardiomyopathy 3B Is a True X-linked hereditary disease Inferred relationship Some
Lethal ataxia-deafness-optic atrophy Is a False X-linked hereditary disease Inferred relationship Some
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome Is a True X-linked hereditary disease Inferred relationship Some
CASK related intellectual disability 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 Is a False X-linked hereditary disease Inferred relationship Some
X-linked dyskeratosis congenita 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 Is a True X-linked hereditary disease Inferred relationship Some
X-linked corneal dermoid Is a False X-linked hereditary disease Inferred relationship Some
Lissencephaly type 1 due to doublecortin gene mutation Is a True X-linked hereditary disease Inferred relationship Some
X-linked retinal dysplasia Is a False X-linked hereditary disease Inferred relationship Some
Alpha thalassaemia X-linked intellectual disability syndrome Is a False X-linked hereditary disease Inferred relationship Some
Choroideraemia hypopituitarism Is a False X-linked hereditary disease Inferred relationship Some
Craniofrontonasal dysplasia Is a False X-linked hereditary disease Inferred relationship Some
Seemanova Lesny syndrome Is a True X-linked hereditary disease Inferred relationship Some
Cerebellum agenesis with hydrocephaly Is a False X-linked hereditary disease Inferred relationship Some
Morse Rawnsley Sargent syndrome Is a False X-linked hereditary disease Inferred relationship Some
Microphthalmia with ankyloblepharon and intellectual disability syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked epilepsy with learning disability and behaviour disorder syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked reticulate pigmentary disorder with systemic manifestation syndrome 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 Is a True X-linked hereditary disease Inferred relationship Some
FRAXE intellectual disability syndrome Is a False X-linked hereditary disease Inferred relationship Some
L1 syndrome Is a False X-linked hereditary disease Inferred relationship Some
Beta thalassaemia X-linked thrombocytopenia syndrome Is a False X-linked hereditary disease Inferred relationship Some
Brunner syndrome Is a False X-linked hereditary disease Inferred relationship Some
Early onset parkinsonism and intellectual disability syndrome Is a False X-linked hereditary disease Inferred relationship Some
Abruzzo Erickson syndrome Is a False X-linked hereditary disease Inferred relationship Some
Atkin Flaitz syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked endothelial corneal dystrophy Is a False X-linked hereditary disease Inferred relationship Some
Deafness and hypogonadism syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked cone dysfunction syndrome with myopia Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome 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 Is a False X-linked hereditary disease Inferred relationship Some
Fried syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked neurodegenerative syndrome Bertini type Is a False X-linked hereditary disease Inferred relationship Some
Chromosome Xq27.3q28 duplication syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked severe congenital neutropenia Is a False X-linked hereditary disease Inferred relationship Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Seemanova type Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Shashi type 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 Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Stevenson type Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Stocco Dos Santos type Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Stoll type Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Turner type Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Van Esch type Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Wilson type Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Schimke type Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Pai type Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Miles-Carpenter type Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Cilliers type Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Cantagrel type Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Armfield type Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Abidi type Is a False X-linked hereditary disease Inferred relationship Some
W syndrome Is a False 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 Is a False 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
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome Is a False X-linked hereditary disease Inferred relationship Some
Syndromic X-linked intellectual disability type 7 Is a False X-linked hereditary disease Inferred relationship Some
Syndromic X-linked intellectual disability due to JARID1C mutation Is a False X-linked hereditary disease Inferred relationship Some
Smith Fineman Myers syndrome Is a False X-linked hereditary disease Inferred relationship Some
Primary ciliary dyskinesia and retinitis pigmentosa syndrome Is a False X-linked hereditary disease Inferred relationship Some
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Is a False X-linked hereditary disease Inferred relationship Some
Chromosome Xp11.3 microdeletion syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability with precocious puberty and obesity syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability with seizure and psoriasis syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Cabezas type Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked mandibulofacial dysostosis Is a False X-linked hereditary disease Inferred relationship Some
X-linked mendelian susceptibility to mycobacterial disease Is a False X-linked hereditary disease Inferred relationship Some
X-linked myopathy with excessive autophagy Is a False X-linked hereditary disease Inferred relationship Some
X-linked sideroblastic anaemia with spinocerebellar ataxia Is a False X-linked hereditary disease Inferred relationship Some
X-linked spinocerebellar ataxia type 3 Is a False X-linked hereditary disease Inferred relationship Some
X-linked spinocerebellar ataxia type 4 Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability, macrocephaly, macroorchidism syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability with acromegaly and hyperactivity syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked immunoneurologic disorder Is a False X-linked hereditary disease Inferred relationship Some
Wilson Turner syndrome Is a True X-linked hereditary disease Inferred relationship Some
X-linked distal arthrogryposis multiplex congenita Is a False X-linked hereditary disease Inferred relationship Some
X-linked dominant chondrodysplasia Chassaing Lacombe type Is a False X-linked hereditary disease Inferred relationship Some
Trichodysplasia with amelogenesis imperfecta syndrome Is a False X-linked hereditary disease Inferred relationship Some
Alport syndrome X-linked Is a False X-linked hereditary disease Inferred relationship Some
X-linked hereditary sensory and autonomic neuropathy with deafness Is a False X-linked hereditary disease Inferred relationship Some
Ataxia with deafness and intellectual disability syndrome Is a True X-linked hereditary disease Inferred relationship Some
Ehlers-Danlos syndrome with periventricular heterotopia Is a False X-linked hereditary disease Inferred relationship Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome Is a True X-linked hereditary disease Inferred relationship Some
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome Is a False X-linked hereditary disease Inferred relationship Some
Choroideraemia with deafness and obesity syndrome Is a False X-linked hereditary disease Inferred relationship Some

Start Page 2 of 3 End

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start