128430005: X-gebonden hereditaire aandoening (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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
X-gebonden syndroom van verstandelijke beperking, agenesie van corpus callosum en spastische tetraparese (aandoening)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Smith-Fineman-Myers-syndroom (aandoening)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Chromosome Xp11.3 microdeletion syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability with precocious puberty and obesity syndrome	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability Cabezas type (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability with plagiocephaly syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked mandibulofacial dysostosis (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked mendelian susceptibility to mycobacterial disease (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked myopathy with excessive autophagy (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked sideroblastic anemia with spinocerebellar ataxia	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked spinocerebellar ataxia type 3 (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked spinocerebellar ataxia type 4 (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked immunoneurologic disorder (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Wilson Turner syndrome (disorder)	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked distal arthrogryposis multiplex congenita (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Trichodysplasia with amelogenesis imperfecta syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Alport syndrome X-linked (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Ataxia with deafness and intellectual disability syndrome (disorder)	Is a	True	X-linked hereditary disease	Inferred relationship	Some
syndroom van Ehlers-Danlos met periventriculaire heterotopie	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	True	X-linked hereditary disease	Inferred relationship	Some
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Choroideremia with deafness and obesity syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Chudley-Lowry-Hoar-syndroom	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Holmes-Gang-syndroom	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Hydrocephalus with obesity and hypogonadism syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Juberg Marsidi syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Microphthalmia with linear skin defect syndrome (disorder)	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 (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
MEHMO 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 (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Intellectual disability, developmental delay, contracture syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Skeletal dysplasia with intellectual disability syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Early-onset X-linked optic atrophy (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Oro-facial digital syndrome type 8 (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Severe X-linked mitochondrial encephalomyopathy (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
N syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Terminal osseous dysplasia and pigmentary defect syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked spastic paraplegia type 2 (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
syndroom van Simpson-Golabi-Behmel type 2	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Nephrogenic syndrome of inappropriate antidiuresis (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Phosphoribosylpyrophosphate synthetase superactivity (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Pierre Robin sequence faciodigital anomaly syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Renier-Gabreels-Jasper-syndroom	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 (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
McLeod neuroacanthocytosis syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Lisch epithelial corneal dystrophy (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Aland Islands eye disease (disorder)	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 (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability Brooks type (disorder)	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked hereditary spastic paraplegia (disorder)	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability Hedera type (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability Nascimento type (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Chromosome Xp22.3 microdeletion syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Beta-propeller protein-associated neurodegeneration (disorder)	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
Choroideremia	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Skeletal dysplasia brachydactyly syndrome	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Congenital disorder of glycosylation type 1y	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Isolated congenital megalocornea (disorder)	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 (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Incontinentia pigmenti syndrome	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 (disorder)	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

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Id	Description	Lang	Type	Status	Case?	Module
206738018	X-linked hereditary disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
732421011	X-linked hereditary disease (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6169611000146110	X-gebonden hereditaire ziekte	nl	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6169621000146117	X-gebonden hereditaire ziekte (aandoening)	nl	Fully specified name	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6169631000146115	X-gebonden erfelijke aandoening	nl	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6169641000146111	X-gebonden genetische aandoening	nl	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13302911000146114	X-gebonden erfelijke ziekte	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13302921000146116	X-gebonden hereditaire aandoening	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13302931000146119	X-gebonden hereditaire aandoening (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)