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1162976004: X-linked recessive hereditary disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

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

212 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked recessive hereditary disease est un(e) (attribut) X-linked hereditary disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Pallister W syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked recessive sensory neuropathy est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Ocular albinism, type I est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Chondrodysplasia punctata, X-linked recessive type est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
syndrome de déficience intellectuelle liée à l'X-épilepsie-psoriasis est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked cone dysfunction syndrome with myopia (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Hydrocephalus with obesity and hypogonadism syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Deficiency of monoamine oxidase A (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Chromosome Xp11.3 microdeletion syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
SCARF syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Shrimpton type est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Pai type (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
N syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked severe congenital neutropenia (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Arts syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Juberg Marsidi syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Intellectual disability, developmental delay, contracture syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Alpha thalassemia X-linked intellectual disability syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked Charcot-Marie-Tooth disease type 4 est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked Charcot-Marie-Tooth disease type 3 est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Abruzzo Erickson syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked spastic paraplegia type 2 (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked Charcot-Marie-Tooth disease type 5 (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked endothelial dystrophy of cornea (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked myopathy with excessive autophagy (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
neuropathie héréditaire sensitive et autonomique liée à l'X avec surdité est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Pierre Robin sequence faciodigital anomaly syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Bullous dystrophy macular type (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked Charcot-Marie-Tooth disease type 2 (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Hoyeraal-Hreidarsson syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Deafness and hypogonadism syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Van Esch type (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked spinocerebellar ataxia type 3 (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Aland Islands eye disease (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Cilliers type (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked spondyloepimetaphyseal dysplasia (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked parkinsonism with spasticity syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
syndrome de duplication Xq12-q13.3 est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked progressive cerebellar ataxia est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked spinocerebellar ataxia type 4 (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked osteoporosis with fractures est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Xp22.13p22.2 duplication syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Snyder-Robinson syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Seemanova type (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Siderius type (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Stevenson type (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Stocco Dos Santos type (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Stoll type (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Schimke type (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Miles Carpenter type (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Cantagrel type (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Armfield type (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
déficience intellectuelle liée à l'X type Nascimento est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked retinal dysplasia (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
3-Methylglutaconic aciduria type 2 est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Agenesis of corpus callosum and abnormal genitalia syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Cerebellum agenesis with hydrocephaly est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Albinism with deafness syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Borjeson-Forssman-Lehmann syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Atrophia bulborum hereditaria est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Bulbospinal neuronopathy est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Blue cone monochromatism (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Beta thalassemia X-linked thrombocytopenia syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Brachytelephalangic chondrodysplasia punctata (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Cutis laxa, x-linked (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Congenital adrenal hypoplasia, X-linked est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
CK syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Contiguous ABCD1 DXS1357E deletion syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Chromosome Xq27.3q28 duplication syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Choroideremia est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Congenital disorder of glycosylation type 1y est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Congenital disorder of glycosylation type 1s est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
maladie de Danon est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Deafness-dystonia-optic neuronopathy syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Dent's disease (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Ehlers-Danlos syndrome, type 5 est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Distal Xq28 microduplication syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Early-onset X-linked optic atrophy (disorder) est un(e) (attribut) False X-linked recessive hereditary disease Inferred relationship Some
Early onset parkinsonism and intellectual disability syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Ferro-cerebro-cutaneous syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Fried syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
FRAXE intellectual disability syndrome (disorder) est un(e) (attribut) True X-linked recessive 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) True X-linked recessive hereditary disease Inferred relationship Some
Hyperekplexia epilepsy syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Infantile epileptic dyskinetic encephalopathy (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some

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