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1162976004: X-linked recessive hereditary disease (disorder)

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

Descriptions:

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

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 Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Infantile epileptic dyskinetic encephalopathy Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Intellectual disability, alacrima, achalasia syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Intellectual disability, balding, patella luxation, acromicria syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Isolated congenital megalocornea Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Keratosis follicularis, dwarfism, cerebral atrophy syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Laryngeal abductor paralysis with intellectual disability syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Lesch-Nyhan syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Lenz microphthalmia syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Lowe syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Menkes kinky-hair syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
McLeod neuroacanthocytosis syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Male emopamil-binding protein disorder with neurological defect Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Monocarboxylate transporter 8 deficiency Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Mucopolysaccharidosis type II Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Ocular albinism with late-onset sensorineural deafness Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Nephrogenic syndrome of inappropriate antidiuresis Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 8 Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Pelizaeus-Merzbacher disease, classic form Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Pelizaeus-Merzbacher disease, connatal variant Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Type III transitional Pelizaeus-Merzbacher disease Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Partial androgen insensitivity syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Pelizaeus-Merzbacher disease null syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Pelizaeus-Merzbacher disease in female carrier Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Renpenning syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Primary ciliary dyskinesia and retinitis pigmentosa syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Phosphoribosylpyrophosphate synthetase superactivity Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Pierre Robin sequence, congenital heart defect, talipes syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Severe neonatal onset encephalopathy with microcephaly Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Severe X-linked mitochondrial encephalomyopathy Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Severe X-linked intellectual disability Gustavson type Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Simpson-Golabi-Behmel syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Spondylometaphyseal dysplasia Golden type Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Syndromic X-linked intellectual disability type 11 Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Syndromic X-linked intellectual disability type 7 Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Skeletal dysplasia with intellectual disability syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Trichodysplasia with amelogenesis imperfecta syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X chromosome-linked sideroblastic anemia Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked agammaglobulinemia with growth hormone deficiency Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked central congenital hypothyroidism with late-onset testicular enlargement Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked calvarial hyperostosis Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked cerebral, cerebellar, coloboma syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked congenital dyserythropoietic anemia with thrombocytopenia Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked spastic paraplegia type 16 Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked corneal dermoid Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked mendelian susceptibility to mycobacterial disease Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked hydrocephalus syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked hyper-immunoglobulin M syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked dystonia parkinsonism Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked spastic paraplegia type 34 Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked ichthyosis with steryl-sulfatase deficiency Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked Emery-Dreifuss muscular dystrophy Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual deficit-dystonia-dysarthria syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Abidi type Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Cabezas type Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability with acromegaly and hyperactivity syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Hedera type Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability hypotonic face syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability with marfanoid habitus Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability with plagiocephaly syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability, macrocephaly, macroorchidism syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked lymphoproliferative syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual developmental disorder Christianson type Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked mandibulofacial dysostosis Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked myopathy with postural muscle atrophy Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked neurodegenerative syndrome Bertini type Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked non progressive cerebellar ataxia Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked neurodegenerative syndrome Hamel type Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked thrombocytopenia with normal platelets Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Juvenile retinoschisis Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Severe X-linked myotubular myopathy Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Glycogen storage disease due to muscle phosphorylase kinase deficiency Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Combined immunodeficiency due to moesin deficiency Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Filamin A-related X-linked myxomatous valvular dysplasia Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
FG syndrome type 1 Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability, short stature, overweight syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier

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