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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
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

224 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 (core metadata concept)
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 (core metadata concept)
Intellectual disability, alacrima, achalasia syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Scholte syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
MEHMO syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Isolated congenital megalocornea Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Laryngeal abductor paralysis with intellectual disability syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Lesch-Nyhan syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Lenz microphthalmia syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Lowe syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Menkes kinky-hair syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
McLeod neuroacanthocytosis syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Male emopamil-binding protein disorder with neurological defect Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis, MPS-II Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic lethal neurometabolic malformation syndrome with characteristics of multiple variable congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanelle, fused metopic suture, upslanted palpebral fissures, over folded helix, depressed nasal bridge, anteverted nose, malar flattening, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed. Caused by mutation in the PIGA gene on chromosome Xp22. Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Ocular albinism with late-onset sensorineural deafness (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Nephrogenic syndrome of inappropriate antidiuresis (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 8 Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Pelizaeus-Merzbacher disease, classic form Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Pelizaeus-Merzbacher disease, connatal variant Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Type III transitional Pelizaeus-Merzbacher disease Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Partial androgen insensitivity syndrome (disorder) Is a False X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Pelizaeus-Merzbacher disease null syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Pelizaeus-Merzbacher disease in female carrier Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Renpenning syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Phosphoribosylpyrophosphate synthetase superactivity (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Severe neonatal onset encephalopathy with microcephaly Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Severe X-linked mitochondrial encephalomyopathy (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Severe X-linked intellectual disability Gustavson type (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Simpson-Golabi-Behmel syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia Golden type (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability type 11 (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability type 7 (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Skeletal dysplasia with intellectual disability syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
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 (core metadata concept)
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
A constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid. Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked agammaglobulinemia with growth hormone deficiency Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked calvarial hyperostosis Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked spastic paraplegia type 16 (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Pettigrew syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked corneal dermoid (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked mendelian susceptibility to mycobacterial disease (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked hydrocephalus syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked hyper-IgM syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked dystonia parkinsonism (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked spastic paraplegia type 34 Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
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 (core metadata concept)
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked ichthyosis with steryl-sulphatase deficiency Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked Emery-Dreifuss muscular dystrophy Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual deficit-dystonia-dysarthria syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Abidi type (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
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 (core metadata concept)
X-linked intellectual disability Cabezas type (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Hedera type (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability due to GRIA3 mutations Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability hypotonic face syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with marfanoid habitus (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with plagiocephaly syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked lymphoproliferative syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual developmental disorder Christianson type (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked mandibulofacial dysostosis Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically neck rigidity, rigid spine, Achilles tendon shortening and respiratory insufficiency later in disease course are present. The phenotype is caused by mutation in the FHL1 gene. Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked neurodegenerative syndrome Bertini type (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked non progressive cerebellar ataxia (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
An X-linked syndromic intellectual disability characterised by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death. Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked thrombocytopenia with normal platelets (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile retinoschisis Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Severe X-linked myotubular myopathy (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare, combined T and B cell immunodeficiency characterised by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinaemia, poor immune response to vaccine antigens, and fluctuating neutropenia. Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Filamin A-related X-linked myxomatous valvular dysplasia (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare X-linked syndromic intellectual disability characterised by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behaviour (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others. Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
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 (core metadata concept)
X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterised by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioural problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted. Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked distal arthrogryposis multiplex congenita (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Adrenomyeloneuropathy (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
A disorder of sex development (DSD) characterised by the presence of female external genitalia, ambiguous genitalia or variable defects in virilisation in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)

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