X-linked hereditary disease (disorder)
| Code | 128430005 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20020131 |
82852009Sex-linked hereditary disorder
disorder
771264005Absent radius, anogenital anomalies syndrome
disorder
65389002Adrenoleucodystrophy
disorder
763311001Adrenomyodystrophy
disorder
720982007Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome
disorder
720517001Ataxia with deafness and intellectual disability syndrome
disorder
718393002Atypical Rett syndrome
disorder
732959007Beta-propeller protein-associated neurodegeneration
disorder
702424003Dilated cardiomyopathy 3B
disorder
16652001Fabry's disease
disorder
82236004Familial x-linked hypophosphataemic vitamin D refractory rickets
disorder
713388002GATA binding protein 1 related thrombocytopaenia with dyserythropoiesis
disorder
62403005Glucose-6-phosphate dehydrogenase deficiency anaemia
disorder
41788008Hereditary factor IX deficiency disease
disorder
28293008Hereditary factor VIII deficiency disease
disorder
239007005Hypohidrotic X-linked ectodermal dysplasia
disorder
715780008Lissencephaly type 1 due to doublecortin gene mutation
disorder
1296869000MECP2 related disorder
disorder
722459008Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
disorder
205802006Oculo-palato-digital syndrome
disorder
771442003Ogden syndrome
disorder
699297004Ohdo syndrome, Maat-Kievit-Brunner type
disorder
716706009PCDH19 clustering epilepsy
disorder
64855000Pelizaeus-Merzbacher disease
disorder
3944006Placental sulphatase deficiency
disorder
715464002Seemanova Lesny syndrome
disorder
771516000Solute carrier family 35 member A2 congenital disorder of glycosylation
disorder
719834005Wilson Turner syndrome
disorder
2241003X-linked absence of thyroxine-binding globulin
disorder
65880007X-linked agammaglobulinaemia
disorder
57536002X-linked asexual dwarfism
disorder
766761000X-linked cleft palate and ankyloglossia
disorder
698290008X-linked creatine deficiency
disorder
1156840002X-linked distal hereditary motor neuropathy
disorder
1162984000X-linked dominant hereditary disease
disorder
708536001X-linked dyskeratosis congenita
disorder
55296004X-linked excess of thyroxine-binding globulin
disorder
230552007X-linked hereditary motor and sensory neuropathy
disorder
724775006X-linked hereditary spastic paraplegia
disorder
1296910008X-linked hereditary vasopressin resistance
disorder
1003390009X-linked hypodontia
disorder
237655001X-linked hypoparathyroidism
disorder
718912003X-linked intellectual disability Turner type
disorder
719009006X-linked intellectual disability Wilson type
disorder
773274001X-linked intellectual disability, craniofacioskeletal syndrome
disorder
1172692006X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
disorder
763462004X-linked lethal multiple pterygium syndrome
disorder
240071003X-linked muscular dystrophy not predominantly limb girdle
disorder
240047005X-linked muscular dystrophy with limb girdle distribution
disorder
1003388008X-linked oligodontia
disorder
1231634003X-linked optic atrophy
disorder
237683004X-linked panhypopituitarism
disorder
448227009X-linked periventricular heterotopia
disorder
1162976004X-linked recessive hereditary disease
disorder
41300001X-linked reduction of thyroxine-binding globulin
disorder
232054005X-linked retinitis pigmentosa
disorder
232329002X-linked sensorineural hearing loss
disorder
1373745005X-linked severe syndromic thoracic aortic aneurysm and dissection
disorder
73068003X-linked variant form of thyroxine-binding globulin
disorder
1229872004Xq25 microduplication syndrome
disorder