X-linked dominant hereditary disease   1162984000

SNOMED CT code


SNOMED code1162984000
nameX-linked dominant hereditary disease
statusactive
date introduced2021-09-30
fully specified name(s)X-linked dominant hereditary disease (disorder)
synonymsX-linked dominant hereditary disease
parentsX-linked hereditary disease   128430005
children
  • 2-methyl-3-hydroxybutyric aciduria   791000124107
  • Aicardi's syndrome   80651009
  • Alport syndrome X-linked   717768004
  • Atkin Flaitz syndrome   718577005
  • BRESEK syndrome   717945001
  • CASK related intellectual disability   703389002
  • CHILD syndrome   17608003
  • Chondrodysplasia punctata, X-linked dominant type   398958000
  • CLCN4-related X-linked intellectual disability syndrome   1172691004
  • Craniofrontonasal dysplasia   715421009
  • Danon disease   419097006
  • Familial infantile gigantism   773645004
  • Focal dermal hypoplasia   205573006
  • Fragile X associated tremor ataxia syndrome   448045004
  • Fragile X syndrome   613003
  • Incontinentia pigmenti syndrome   367520004
  • Lisch epithelial corneal dystrophy   724175002
  • Microphthalmia with linear skin defect syndrome   721879006
  • Nance-Horan syndrome   445257004
  • Oculofaciocardiodental syndrome   699300009
  • Otopalatodigital syndrome spectrum disorder   784010006
  • PPM-X syndrome   702356009
  • Rett syndrome   68618008
  • Skeletal dysplasia brachydactyly syndrome   733095006
  • STAR syndrome   723581006
  • Torticollis, keloids, cryptorchidism, renal dysplasia syndrome   771266007
  • X-linked Charcot-Marie-Tooth disease type 1   763455008
  • X-linked Charcot-Marie-Tooth disease type 6   763347000
  • X-linked congenital generalized hypertrichosis   1010628009
  • X-linked dominant chondrodysplasia Chassaing Lacombe type   719837003
  • X-linked dominant erythropoietic protoporphyria   1197360001
  • X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability   1172697000
  • X-linked immunoneurologic disorder   719827008
  • X-linked intellectual disability with cerebellar hypoplasia syndrome   719136005
  • X-linked intellectual disability, hypotonia, movement disorder syndrome   1254654006
  • X-linked reticulate pigmentary disorder with systemic manifestation syndrome   717224002
  • X-linked scapuloperoneal muscular dystrophy   784352007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked dominant hereditary disease   1162984000

ancestors
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