X-linked dominant hereditary disease (disorder)
| Code | 1162984000 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20210930 |
128430005X-linked hereditary disease
disorder
7910001241072-methyl-3-hydroxybutyric aciduria
disorder
80651009Aicardi's syndrome
disorder
717768004Alport syndrome X-linked
disorder
718577005Atkin Flaitz syndrome
disorder
717945001BRESEK syndrome
disorder
703389002CASK related intellectual disability
disorder
17608003CHILD syndrome
disorder
1172691004CLCN4-related X-linked intellectual disability syndrome
disorder
398958000Chondrodysplasia punctata, X-linked dominant type
disorder
715421009Craniofrontonasal dysplasia
disorder
419097006Danon disease
disorder
773645004Familial infantile gigantism
disorder
205573006Focal dermal hypoplasia
disorder
448045004Fragile X associated tremor ataxia syndrome
disorder
613003Fragile X syndrome
disorder
367520004Incontinentia pigmenti syndrome
disorder
724175002Lisch epithelial corneal dystrophy
disorder
721879006Microphthalmia with linear skin defect syndrome
disorder
445257004Nance-Horan syndrome
disorder
699300009Oculofaciocardiodental syndrome
disorder
784010006Otopalatodigital syndrome spectrum disorder
disorder
702356009PPM-X syndrome
disorder
68618008Rett syndrome
disorder
723581006STAR syndrome
disorder
733095006Skeletal dysplasia brachydactyly syndrome
disorder
771266007Torticollis, keloids, cryptorchidism, renal dysplasia syndrome
disorder
763455008X-linked Charcot-Marie-Tooth disease type 1
disorder
763347000X-linked Charcot-Marie-Tooth disease type 6
disorder
1010628009X-linked congenital generalised hypertrichosis
disorder
719837003X-linked dominant chondrodysplasia Chassaing Lacombe type
disorder
1197360001X-linked dominant erythropoietic protoporphyria
disorder
1172697000X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
disorder
719827008X-linked immunoneurologic disorder
disorder
719136005X-linked intellectual disability with cerebellar hypoplasia syndrome
disorder
1254654006X-linked intellectual disability, hypotonia, movement disorder syndrome
disorder
717224002X-linked reticulate pigmentary disorder with systemic manifestation syndrome
disorder
784352007X-linked scapuloperoneal muscular dystrophy
disorder