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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
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Pallister W syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked recessive sensory neuropathy Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Ocular albinism, type I Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia punctata, X-linked recessive type (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with seizure and psoriasis syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked cone dysfunction syndrome with myopia (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus with obesity and hypogonadism syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of monoamine oxidase A (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with ataxia and apraxia syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome Xp11.3 microdeletion syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
SCARF syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterised by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localised to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Shrimpton type Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Pai type Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
N syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked severe congenital neutropenia (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Fatal X-linked ataxia with deafness and loss of vision (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Juberg Marsidi syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, developmental delay, contracture syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Alpha thalassemia X-linked intellectual disability syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked Charcot-Marie-Tooth disease type 4 Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked Charcot-Marie-Tooth disease type 3 Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Abruzzo Erickson syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked spastic paraplegia type 2 (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy. Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked myopathy with excessive autophagy (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Deafness and intellectual disability Martin Probst type syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Pierre Robin sequence faciodigital anomaly syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Bullous dystrophy macular type Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked Charcot-Marie-Tooth disease type 2 (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
A very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita, characterised by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anaemia. Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Deafness and hypogonadism syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Van Esch type (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked spinocerebellar ataxia type 3 Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Aland Islands eye disease (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Cilliers type (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked spondyloepimetaphyseal dysplasia Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked parkinsonism with spasticity syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Xq12-q13.3 duplication syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked progressive cerebellar ataxia (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked spinocerebellar ataxia type 4 Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked osteoporosis with fractures Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Xp22.13p22.2 duplication syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Snyder-Robinson syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, Seemanova type is characterized by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Siderius type (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Stevenson type (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Stocco Dos Santos type (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Stoll type (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Schimke type (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Miles Carpenter type (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Cantagrel type Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Armfield type (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterised by intellectual disability (with severe speech impairment), a myxoedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures. Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked retinal dysplasia (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
3-Methylglutaconic aciduria type 2 (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of corpus callosum and abnormal genitalia syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterised by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of cerebellum and hydrocephalus syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Albinism with deafness syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Borjeson-Forssman-Lehmann syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Atrophia bulborum hereditaria Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Bulbospinal neuronopathy Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Blue cone monochromatism (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Beta thalassemia X-linked thrombocytopenia syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Brachytelephalangic chondrodysplasia punctata (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Cutis laxa, x-linked Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital adrenal hypoplasia, X-linked (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. Caused by hemizygous mutation in the NSDHL gene on chromosome Xq28. Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Contiguous ABCD1 DXS1357E deletion syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome Xq27.3q28 duplication syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Choroideraemia Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital disorder of glycosylation type 1y Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital disorder of glycosylation type 1s Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder) Is a False X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Deafness-dystonia-optic neuronopathy syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Dent's disease (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked Ehlers-Danlos syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Distal Xq28 microduplication syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset X-linked optic atrophy (disorder) Is a False X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients. Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Ferro-cerebro-cutaneous syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Fried syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
FRAXE intellectual disability syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
L1 syndrome Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hyperekplexia epilepsy syndrome (disorder) Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Infantile epileptic dyskinetic encephalopathy Is a True X-linked recessive hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)

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