FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

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
Ogden syndrome Is a True X-linked hereditary disease Inferred relationship Some
Solute carrier family 35 member A2 congenital disorder of glycosylation Is a True X-linked hereditary disease Inferred relationship Some
X-linked central congenital hypothyroidism with late-onset testicular enlargement 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
Spondyloepimetaphyseal dysplasia Bieganski type Is a False X-linked hereditary disease Inferred relationship Some
Spondylometaphyseal dysplasia Golden type 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 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 Is a False X-linked hereditary disease Inferred relationship Some
X-linked myopathy with postural muscle atrophy 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 Is a False X-linked hereditary disease Inferred relationship Some
X-linked acrogigantism Is a False X-linked hereditary disease Inferred relationship Some
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome 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 Is a False X-linked hereditary disease Inferred relationship Some
X-linked acrogigantism Is a False X-linked hereditary disease Inferred relationship Some
Lesch-Nyhan syndrome 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 anaemia with abnormal platelets and neutropenia 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 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 Is a False X-linked hereditary disease Inferred relationship Some
Hyperekplexia epilepsy syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked dominant chondrodysplasia punctata of Happle Is a False X-linked hereditary disease Inferred relationship Some
X-linked acrogigantism Is a False X-linked hereditary disease Inferred relationship Some
Partial androgen insensitivity syndrome Is a False X-linked hereditary disease Inferred relationship Some
Focal dermal hypoplasia Is a False X-linked hereditary disease Inferred relationship Some
Ehlers-Danlos syndrome, type 5 Is a False X-linked hereditary disease Inferred relationship Some
Pelizaeus-Merzbacher disease 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 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 hypophosphataemic 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 Is a True X-linked hereditary disease Inferred relationship Some
X-linked oligodontia Is a True X-linked hereditary disease Inferred relationship Some
X-linked congenital generalised 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 thrombocytopaenia with normal platelets 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 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
Panhypopituitarism - X-linked Is a True X-linked hereditary disease Inferred relationship Some
Hypoparathyroidism - X-linked 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
Atrophia bulborum hereditaria Is a False X-linked hereditary disease Inferred relationship Some
Fabry's disease Is a True X-linked hereditary disease Inferred relationship Some
Borjeson-Forssman-Lehmann syndrome Is a False X-linked hereditary disease Inferred relationship Some
Hereditary factor VIII deficiency disease Is a True X-linked hereditary disease Inferred relationship Some
Placental sulfatase deficiency Is a True X-linked hereditary disease Inferred relationship Some
Hereditary factor IX deficiency disease Is a True X-linked hereditary disease Inferred relationship Some
Menkes kinky-hair syndrome Is a False X-linked hereditary disease Inferred relationship Some
Glycogen storage disease, type VI Is a False X-linked hereditary disease Inferred relationship Some
Hereditary nephrogenic diabetes insipidus Is a True X-linked hereditary disease Inferred relationship Some
Glucose-6-phosphate dehydrogenase deficiency anaemia Is a True X-linked hereditary disease Inferred relationship Some
X-linked agammaglobulinaemia Is a True X-linked hereditary disease Inferred relationship Some
Mucopolysaccharidosis, MPS-II Is a False X-linked hereditary disease Inferred relationship Some
X-linked hydrocephalus syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked ichthyosis with steryl-sulfatase deficiency Is a False X-linked hereditary disease Inferred relationship Some
Congenital adrenal hypoplasia, X-linked Is a False X-linked hereditary disease Inferred relationship Some
X-linked lymphoproliferative syndrome Is a False X-linked hereditary disease Inferred relationship Some
Ocular albinism, type I Is a False X-linked hereditary disease Inferred relationship Some
Danon disease Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability with marfanoid habitus Is a False X-linked hereditary disease Inferred relationship Some
Simpson-Golabi-Behmel syndrome Is a False X-linked hereditary disease Inferred relationship Some
Lenz microphthalmia syndrome Is a False X-linked hereditary disease Inferred relationship Some
Dent's disease Is a False X-linked hereditary disease Inferred relationship Some
Nance-Horan syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked periventricular heterotopia Is a True X-linked hereditary disease Inferred relationship Some
X-linked dystonia parkinsonism Is a False X-linked hereditary disease Inferred relationship Some
X-linked creatine deficiency Is a True X-linked hereditary disease Inferred relationship Some
Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type Is a True X-linked hereditary disease Inferred relationship Some
Oculofaciocardiodental syndrome Is a False X-linked hereditary disease Inferred relationship Some
Renpenning syndrome Is a False X-linked hereditary disease Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a False X-linked hereditary disease Inferred relationship Some
Christianson syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability-psychosis-macroorchidism syndrome Is a False X-linked hereditary disease Inferred relationship Some
Partington syndrome Is a False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Snyder type Is a False X-linked hereditary disease Inferred relationship Some
Deafness-dystonia-optic neuronopathy syndrome Is a False X-linked hereditary disease Inferred relationship Some

Page 1 of 3 Next End

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start