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-linked hereditary motor and sensory neuropathy	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked lethal multiple pterygium syndrome (disorder)	Is a	True	X-linked hereditary disease	Inferred relationship	Some
Intellectual disability, alacrima, achalasia syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Fragile X associated tremor ataxia syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Agenesis of corpus callosum and abnormal genitalia syndrome	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Oro-facial digital syndrome type 1 (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Xq12-q13.3 duplication syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked agammaglobulinemia 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 anemia	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 (disorder)	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 (disorder)	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 (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked parkinsonism with spasticity syndrome (disorder)	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 (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Infantile epileptic dyskinetic encephalopathy (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Absent radius, anogenital anomalies syndrome (disorder)	Is a	True	X-linked hereditary disease	Inferred relationship	Some
Severe neonatal onset encephalopathy with microcephaly (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Ogden syndrome (disorder)	Is a	True	X-linked hereditary disease	Inferred relationship	Some
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability, craniofacioskeletal syndrome	Is a	True	X-linked hereditary disease	Inferred relationship	Some
spondylo-epimetafysaire dysplasie type Bieganski	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Spondylometaphyseal dysplasia Golden type (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
CK syndrome	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Contiguous ABCD1 DXS1357E deletion syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Distal Xq28 microduplication syndrome	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked myopathy with postural muscle atrophy (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Multiple congenital anomalies, hypotonia, seizures syndrome type 2	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Familial infantile gigantism (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-gebonden acromegalie	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Ferro-cerebro-cutaneous syndrome	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Brachytelephalangic chondrodysplasia punctata (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Bulbospinal neuronopathy	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked osteoporosis with fractures	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Xp22.13p22.2 duplication syndrome	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Male emopamil-binding protein disorder with neurological defect	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked calvarial hyperostosis	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Atypical Rett syndrome (disorder)	Is a	True	X-linked hereditary disease	Inferred relationship	Some
Cutis laxa, x-linked	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability due to GRIA3 mutations	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Otopalatodigital syndrome spectrum disorder	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked scapuloperoneal muscular dystrophy (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Hyperekplexia epilepsy syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-gebonden dominante chondrodysplasia punctata type 2 (aandoening)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Partial androgen insensitivity syndrome (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Focal dermal hypoplasia	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked Ehlers-Danlos syndrome	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Pelizaeus-Merzbacher disease (disorder)	Is a	True	X-linked hereditary disease	Inferred relationship	Some
Fragile X syndrome	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Lowe syndrome	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Aicardi's syndrome	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Blue cone monochromatism (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked progressive cerebellar ataxia	Is a	False	X-linked hereditary disease	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked asexual dwarfism	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked hypodontia (disorder)	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked oligodontia (disorder)	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked congenital generalized hypertrichosis	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked intellectual disability hypotonic face syndrome	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked complex hereditary spastic paraplegia	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked pure hereditary spastic paraplegia	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked Emery-Dreifuss muscular dystrophy	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked distal hereditary motor neuropathy	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked thrombocytopenia with normal platelets (disorder)	Is a	False	X-linked hereditary disease	Inferred relationship	Some
X-linked recessive hereditary disease	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked dominant hereditary disease (disorder)	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked sensorineural hearing loss	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked excess of thyroxine-binding globulin	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked reduction of thyroxine-binding globulin	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked absence of thyroxine-binding globulin	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked retinitis pigmentosa	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked variant form of thyroxine-binding globulin	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked panhypopituitarism (disorder)	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked hypoparathyroidism (disorder)	Is a	True	X-linked hereditary disease	Inferred relationship	Some
Xq25 microduplication syndrome	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked optic atrophy	Is a	True	X-linked hereditary disease	Inferred relationship	Some
Adrenoleukodystrophy	Is a	True	X-linked hereditary disease	Inferred relationship	Some
Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder)	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked hereditary vasopressin resistance	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-linked chronic granulomatous disease (disorder)	Is a	True	X-linked hereditary disease	Inferred relationship	Some
X-gebonden dominante erytropoëtische protoporfyrie	Is a	False	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)