1162976004: X-gebonden hereditaire recessieve aandoening (aandoening)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

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 (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Intellectual disability, alacrima, achalasia syndrome (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
MEHMO syndrome	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Isolated congenital megalocornea (disorder)	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 (disorder)	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 (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder)	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 (disorder)	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 (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Ocular albinism with late-onset sensorineural deafness (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Nephrogenic syndrome of inappropriate antidiuresis (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Oro-facial digital syndrome type 8 (disorder)	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 (disorder)	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 (disorder)	Is a	False	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 (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Phosphoribosylpyrophosphate synthetase superactivity (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Severe neonatal onset encephalopathy with microcephaly (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Severe X-linked mitochondrial encephalomyopathy (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Simpson-Golabi-Behmel syndrome (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Spondylometaphyseal dysplasia Golden type (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Syndromic X-linked intellectual disability type 11 (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Skeletal dysplasia with intellectual disability syndrome (disorder)	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 (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
X chromosome-linked sideroblastic anemia	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
X-linked agammaglobulinemia 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 (disorder)	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 (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)	Is a	False	X-linked recessive hereditary disease	Inferred relationship	Some
X-linked spastic paraplegia type 16 (disorder)	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 (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
X-linked corneal dermoid (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
X-linked mendelian susceptibility to mycobacterial disease (disorder)	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 anemia with abnormal platelets and neutropenia (disorder)	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 (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)	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 (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
X-linked intellectual disability Cabezas type (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
X-linked intellectual disability Hedera type (disorder)	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 hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
X-linked intellectual disability with marfanoid habitus (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
X-linked intellectual disability with plagiocephaly syndrome (disorder)	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, arginine vasopressin deficiency (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	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 (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
X-linked myopathy with postural muscle atrophy (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
X-linked neurodegenerative syndrome Bertini type (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
X-linked non progressive cerebellar ataxia (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
X-linked neurodegenerative syndrome Hamel type (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
X-linked thrombocytopenia with normal platelets (disorder)	Is a	False	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 (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Combined immunodeficiency due to moesin deficiency (disorder)	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 (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)	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 (disorder)	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
X-linked distal arthrogryposis multiplex congenita (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Adrenomyeloneuropathy (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some
Androgen resistance syndrome	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Some

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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
13302951000146113	X-gebonden hereditaire recessieve aandoening	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13302961000146111	X-gebonden erfelijke recessieve ziekte	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13302971000146117	X-gebonden hereditaire recessieve aandoening (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)