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128430005: X-linked hereditary disease (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
206738018 X-linked hereditary disease en Synonym Active Case sensitive SNOMED CT core
732421011 X-linked hereditary disease (disorder) en Fully specified name Active Case sensitive SNOMED CT core

366 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked hereditary disease Is a Sex-linked hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Choroideraemia with deafness and obesity syndrome Is a False X-linked hereditary disease Inferred relationship Some
Chudley Lowry Hoar syndrome Is a False X-linked hereditary disease Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome Is a False X-linked hereditary disease Inferred relationship Some
Holmes Gang syndrome Is a False X-linked hereditary disease Inferred relationship Some
Hydrocephalus with obesity and hypogonadism syndrome Is a False X-linked hereditary disease Inferred relationship Some
Juberg Marsidi syndrome Is a False X-linked hereditary disease Inferred relationship Some
Microphthalmia with linear skin defect syndrome Is a False X-linked hereditary disease Inferred relationship Some
BRESEK syndrome Is a False X-linked hereditary disease Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome Is a False X-linked hereditary disease Inferred relationship Some
Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome Is a False X-linked hereditary disease Inferred relationship Some
Oto-palato-digital syndrome, type II Is a False X-linked hereditary disease Inferred relationship Some
Oto-palato-digital syndrome, type I Is a False X-linked hereditary disease Inferred relationship Some
Ocular albinism with late-onset sensorineural deafness Is a False X-linked hereditary disease Inferred relationship Some
Albinism with deafness syndrome Is a False X-linked hereditary disease Inferred relationship Some
Intellectual disability, developmental delay, contracture syndrome Is a False X-linked hereditary disease Inferred relationship Some
Skeletal dysplasia with intellectual disability syndrome Is a False X-linked hereditary disease Inferred relationship Some
Early-onset X-linked optic atrophy Is a False X-linked hereditary disease Inferred relationship Some
Orofaciodigital syndrome type 8 Is a False X-linked hereditary disease Inferred relationship Some
Severe X-linked mitochondrial encephalomyopathy Is a False X-linked hereditary disease Inferred relationship Some
Severe X-linked intellectual disability Gustavson type Is a False X-linked hereditary disease Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome Is a False X-linked hereditary disease Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome Is a True X-linked hereditary disease Inferred relationship Some
X-linked congenital dyserythropoietic anaemia with thrombocytopenia Is a False X-linked hereditary disease Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome Is a False X-linked hereditary disease Inferred relationship Some
N syndrome Is a False X-linked hereditary disease Inferred relationship Some
Terminal osseous dysplasia and pigmentary defect syndrome Is a False X-linked hereditary disease Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome Is a False X-linked hereditary disease Inferred relationship Some
Spastic paraplegia type 2 Is a False X-linked hereditary disease Inferred relationship Some
Simpson Golabi Behmel syndrome type 2 Is a False X-linked hereditary disease Inferred relationship Some
Nephrogenic syndrome of inappropriate antidiuresis Is a False X-linked hereditary disease Inferred relationship Some
Phosphoribosylpyrophosphate synthetase superactivity Is a False X-linked hereditary disease Inferred relationship Some
Pierre Robin sequence faciodigital anomaly syndrome Is a False X-linked hereditary disease Inferred relationship Some
Renier Gabreels Jasper syndrome Is a False X-linked hereditary disease Inferred relationship Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome Is a False X-linked hereditary disease Inferred relationship Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome Is a False X-linked hereditary disease Inferred relationship Some
McLeod neuroacanthocytosis syndrome Is a False X-linked hereditary disease Inferred relationship Some
Lisch epithelial corneal dystrophy Is a False X-linked hereditary disease Inferred relationship Some
Laryngeal abductor paralysis with intellectual disability syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked spasticity, intellectual disability, epilepsy syndrome Is a False X-linked hereditary disease Inferred relationship Some
Aland Islands eye disease Is a False X-linked hereditary disease Inferred relationship Some
Hypohidrotic X-linked ectodermal dysplasia Is a True X-linked hereditary disease Inferred relationship Some
X-linked muscular dystrophy not predominantly limb girdle Is a True X-linked hereditary disease Inferred relationship Some
Bullous dystrophy macular type Is a False X-linked hereditary disease Inferred relationship Some
TARP syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Brooks type Is a True X-linked hereditary disease Inferred relationship Some
X-linked hereditary spastic paraplegia Is a True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Hedera type Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Nascimento type Is a False X-linked hereditary disease Inferred relationship Some
Xp22.3 microdeletion syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome Is a False X-linked hereditary disease Inferred relationship Some
Beta-propeller protein-associated neurodegeneration Is a True X-linked hereditary disease Inferred relationship Some
X-linked hyper-IgM syndrome Is a False X-linked hereditary disease Inferred relationship Some
Congenital disorder of glycosylation type 1s Is a False X-linked hereditary disease Inferred relationship Some
Choroideraemia Is a False X-linked hereditary disease Inferred relationship Some
Mononen Karnes Senac syndrome Is a False X-linked hereditary disease Inferred relationship Some
SSR4-CDG - signal sequence receptor subunit 4 congenital disorder of glycosylation Is a False X-linked hereditary disease Inferred relationship Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome Is a False X-linked hereditary disease Inferred relationship Some
Isolated congenital megalocornea Is a False X-linked hereditary disease Inferred relationship Some
SCARF syndrome Is a False X-linked hereditary disease Inferred relationship Some
2-methyl-3-hydroxybutyric aciduria Is a False X-linked hereditary disease Inferred relationship Some
Incontinentia pigmenti syndrome Is a False X-linked hereditary disease Inferred relationship Some
Ocular albinism, type II Is a False X-linked hereditary disease Inferred relationship Some
Oculo-palato-digital syndrome Is a True X-linked hereditary disease Inferred relationship Some
Adrenomyodystrophy Is a True X-linked hereditary disease Inferred relationship Some
X-linked hereditary motor and sensory neuropathy Is a True X-linked hereditary disease Inferred relationship Some
X-linked lethal multiple pterygium syndrome Is a True X-linked hereditary disease Inferred relationship Some
Intellectual disability, alacrima, achalasia syndrome Is a False X-linked hereditary disease Inferred relationship Some
Fragile X associated tremor ataxia syndrome Is a False X-linked hereditary disease Inferred relationship Some
Corpus callosum agenesis, abnormal genitalia syndrome Is a False X-linked hereditary disease Inferred relationship Some
Oro-facial digital syndrome type 1 Is a False X-linked hereditary disease Inferred relationship Some
Xq12-q13.3 duplication syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked agammaglobulinaemia with growth hormone deficiency Is a False X-linked hereditary disease Inferred relationship Some
X-linked muscular dystrophy with limb girdle distribution Is a True X-linked hereditary disease Inferred relationship Some
X chromosome-linked sideroblastic anaemia Is a False X-linked hereditary disease Inferred relationship Some
T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked non progressive cerebellar ataxia Is a False X-linked hereditary disease Inferred relationship Some
X-linked cleft palate and ankyloglossia Is a True X-linked hereditary disease Inferred relationship Some
X-linked distal spinal muscular atrophy type 3 Is a False X-linked hereditary disease Inferred relationship Some
Otopalatodigital syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked spondyloepimetaphyseal dysplasia Is a False X-linked hereditary disease Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked parkinsonism with spasticity syndrome Is a False X-linked hereditary disease Inferred relationship Some
Spinal muscular atrophy with respiratory distress type 2 Is a False X-linked hereditary disease Inferred relationship Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a False X-linked hereditary disease Inferred relationship Some
Infantile epileptic dyskinetic encephalopathy Is a False X-linked hereditary disease Inferred relationship Some
Absent radius, anogenital anomalies syndrome Is a True X-linked hereditary disease Inferred relationship Some
Severe neonatal onset encephalopathy with microcephaly Is a False X-linked hereditary disease Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome Is a False X-linked hereditary disease Inferred relationship Some

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Australian emergency department reference set

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