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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
Infantile epileptic dyskinetic encephalopathy Is a True X-linked recessive hereditary disease Inferred relationship Some
Intellectual disability, alacrima, achalasia syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Isolated congenital megalocornea Is a True X-linked recessive hereditary disease Inferred relationship Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Laryngeal abductor paralysis with intellectual disability syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Lesch-Nyhan syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Lenz microphthalmia syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Lowe syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Menkes kinky-hair syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
McLeod neuroacanthocytosis syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Male emopamil-binding protein disorder with neurological defect Is a True X-linked recessive hereditary disease Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Mucopolysaccharidosis, MPS-II Is a True X-linked recessive hereditary disease Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Is a True X-linked recessive hereditary disease Inferred relationship Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Ocular albinism with late-onset sensorineural deafness Is a True X-linked recessive hereditary disease Inferred relationship Some
Nephrogenic syndrome of inappropriate antidiuresis Is a True X-linked recessive hereditary disease Inferred relationship Some
Orofaciodigital syndrome type 8 Is a True X-linked recessive hereditary disease Inferred relationship Some
Pelizaeus-Merzbacher disease, classic form Is a True X-linked recessive hereditary disease Inferred relationship Some
Pelizaeus-Merzbacher disease, connatal variant Is a True X-linked recessive hereditary disease Inferred relationship Some
Type III transitional Pelizaeus-Merzbacher disease Is a True X-linked recessive hereditary disease Inferred relationship Some
Partial androgen insensitivity syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Pelizaeus-Merzbacher disease null syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Pelizaeus-Merzbacher disease in female carrier Is a True X-linked recessive hereditary disease Inferred relationship Some
Renpenning syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Primary ciliary dyskinesia and retinitis pigmentosa syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Phosphoribosylpyrophosphate synthetase superactivity Is a True X-linked recessive hereditary disease Inferred relationship Some
TARP syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Severe neonatal onset encephalopathy with microcephaly Is a True X-linked recessive hereditary disease Inferred relationship Some
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Severe X-linked mitochondrial encephalomyopathy Is a True X-linked recessive hereditary disease Inferred relationship Some
Severe X-linked intellectual disability Gustavson type Is a True X-linked recessive hereditary disease Inferred relationship Some
Simpson-Golabi-Behmel syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Spondylometaphyseal dysplasia Golden type Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Shashi type Is a True X-linked recessive hereditary disease Inferred relationship Some
Syndromic X-linked intellectual disability type 7 Is a True X-linked recessive hereditary disease Inferred relationship Some
Skeletal dysplasia with intellectual disability syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency Is a True X-linked recessive hereditary disease Inferred relationship Some
Trichodysplasia with amelogenesis imperfecta syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X chromosome-linked sideroblastic anaemia Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked agammaglobulinaemia with growth hormone deficiency Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked central congenital hypothyroidism with late-onset testicular enlargement Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked calvarial hyperostosis Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked congenital dyserythropoietic anaemia with thrombocytopenia Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked spastic paraplegia type 16 Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked corneal dermoid Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked mendelian susceptibility to mycobacterial disease Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked hydrocephalus syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked hyper-IgM syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked dystonia parkinsonism Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked spastic paraplegia type 34 Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked ichthyosis with steryl-sulfatase deficiency Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked Emery-Dreifuss muscular dystrophy Is a True X-linked recessive hereditary disease Inferred relationship Some
Partington syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Abidi type Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Cabezas type Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability with acromegaly and hyperactivity syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Hedera type Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability due to GRIA3 mutations Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability hypotonic face syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability with marfanoid habitus Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability, macrocephaly, macroorchidism syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked lymphoproliferative syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
Christianson syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked mandibulofacial dysostosis Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked myopathy with postural muscle atrophy Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked neurodegenerative syndrome Bertini type Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked non progressive cerebellar ataxia Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked neurodegenerative syndrome Hamel type Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked thrombocytopaenia with normal platelets Is a True X-linked recessive hereditary disease Inferred relationship Some
Juvenile retinoschisis Is a True X-linked recessive hereditary disease Inferred relationship Some
Severe X-linked myotubular myopathy Is a True X-linked recessive hereditary disease Inferred relationship Some
Glycogen storage disease due to muscle phosphorylase kinase deficiency Is a True X-linked recessive hereditary disease Inferred relationship Some
Combined immunodeficiency due to moesin deficiency Is a True X-linked recessive hereditary disease Inferred relationship Some
FLNA-related X-linked myxomatous valvular dysplasia Is a True X-linked recessive hereditary disease Inferred relationship Some
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Is a True X-linked recessive hereditary disease Inferred relationship Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
FG syndrome type 1 Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability, short stature, overweight syndrome Is a True X-linked recessive hereditary disease Inferred relationship Some

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