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1162976004: X-linked recessive hereditary disease (disorder)

Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4592775017 X-linked recessive hereditary disease en Synonym Active Case sensitive SNOMED CT core
4592776016 X-linked recessive hereditary disease (disorder) en Fully specified name Active Case sensitive SNOMED CT core

215 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked recessive hereditary disease Is a X-linked hereditary disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Syndromic X-linked intellectual disability due to JARID1C mutation Is a True X-linked recessive hereditary disease Inferred relationship Some
W syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked recessive sensory neuropathy Is a True X-linked recessive hereditary disease Inferred relationship Some
Ocular albinism, type I Is a True X-linked recessive hereditary disease Inferred relationship Some
Chondrodysplasia punctata, X-linked recessive type Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability with seizure and psoriasis syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked cone dysfunction syndrome with myopia Is a True X-linked recessive hereditary disease Inferred relationship Some
Hydrocephalus with obesity and hypogonadism syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Brunner syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Chromosome Xp11.3 microdeletion syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
SCARF syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Microphthalmia with ankyloblepharon and intellectual disability syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked epilepsy with learning disability and behaviour disorder syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Shrimpton type Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Pai type Is a True X-linked recessive hereditary disease Inferred relationship Some
N syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked spasticity, intellectual disability, epilepsy syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked severe congenital neutropenia Is a True X-linked recessive hereditary disease Inferred relationship Some
Lethal ataxia-deafness-optic atrophy Is a True X-linked recessive hereditary disease Inferred relationship Some
Juberg Marsidi syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Intellectual disability, developmental delay, contracture syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Alpha thalassaemia X-linked intellectual disability syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked Charcot-Marie-Tooth disease type 4 Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked Charcot-Marie-Tooth disease type 3 Is a True X-linked recessive hereditary disease Inferred relationship Some
Abruzzo Erickson syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Spastic paraplegia type 2 Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked Charcot-Marie-Tooth disease type 5 Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked endothelial corneal dystrophy Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked myopathy with excessive autophagy Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked hereditary sensory and autonomic neuropathy with deafness Is a True X-linked recessive hereditary disease Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Pierre Robin sequence faciodigital anomaly syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Bullous dystrophy macular type Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked Charcot-Marie-Tooth disease type 2 Is a True X-linked recessive hereditary disease Inferred relationship Some
Morse Rawnsley Sargent syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Hoyeraal-Hreidarsson syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Deafness and hypogonadism syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Van Esch type Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked spinocerebellar ataxia type 3 Is a True X-linked recessive hereditary disease Inferred relationship Some
Aland Islands eye disease Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Cilliers type Is a True X-linked recessive hereditary disease Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked spondyloepimetaphyseal dysplasia Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked parkinsonism with spasticity syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Xq12-q13.3 duplication syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked progressive cerebellar ataxia Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked spinocerebellar ataxia type 4 Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked osteoporosis with fractures Is a True X-linked recessive hereditary disease Inferred relationship Some
Xp22.13p22.2 duplication syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Snyder type Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Seemanova type Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Siderius type Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Stevenson type Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Stocco Dos Santos type Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Stoll type Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Schimke type Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Miles-Carpenter type Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Cantagrel type Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Armfield type Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Nascimento type Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked retinal dysplasia Is a True X-linked recessive hereditary disease Inferred relationship Some
3-Methylglutaconic aciduria type 2 Is a True X-linked recessive hereditary disease Inferred relationship Some
Corpus callosum agenesis, abnormal genitalia syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Cerebellum agenesis with hydrocephaly Is a True X-linked recessive hereditary disease Inferred relationship Some
Albinism with deafness syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Borjeson-Forssman-Lehmann syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Atrophia bulborum hereditaria Is a True X-linked recessive hereditary disease Inferred relationship Some
Bulbospinal neuronopathy Is a True X-linked recessive hereditary disease Inferred relationship Some
Blue cone monochromatism Is a True X-linked recessive hereditary disease Inferred relationship Some
Beta thalassaemia X-linked thrombocytopenia syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Brachytelephalangic chondrodysplasia punctata Is a True X-linked recessive hereditary disease Inferred relationship Some
Cutis laxa, x-linked Is a True X-linked recessive hereditary disease Inferred relationship Some
Congenital adrenal hypoplasia, X-linked Is a True X-linked recessive hereditary disease Inferred relationship Some
CK syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Contiguous ABCD1 DXS1357E deletion syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Chromosome Xq27.3q28 duplication syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Choroideraemia Is a True X-linked recessive hereditary disease Inferred relationship Some
SSR4-CDG - signal sequence receptor subunit 4 congenital disorder of glycosylation Is a True X-linked recessive hereditary disease Inferred relationship Some
Congenital disorder of glycosylation type 1s Is a True X-linked recessive hereditary disease Inferred relationship Some
Danon disease Is a True X-linked recessive hereditary disease Inferred relationship Some
Deafness-dystonia-optic neuronopathy syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Dent's disease Is a True X-linked recessive hereditary disease Inferred relationship Some
Ehlers-Danlos syndrome, type 5 Is a True X-linked recessive hereditary disease Inferred relationship Some
Distal Xq28 microduplication syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Early-onset X-linked optic atrophy Is a False X-linked recessive hereditary disease Inferred relationship Some
Early onset parkinsonism and intellectual disability syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Ferro-cerebro-cutaneous syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Fried syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
FRAXE intellectual disability syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
L1 syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Hyperekplexia epilepsy syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Infantile epileptic dyskinetic encephalopathy Is a True X-linked recessive hereditary disease Inferred relationship Some

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