X-linked hereditary disease   128430005

SNOMED CT code


SNOMED code128430005
nameX-linked hereditary disease
statusactive
date introduced2002-01-31
fully specified name(s)X-linked hereditary disease (disorder)
synonymsX-linked hereditary disease
parentsSex-linked hereditary disorder   82852009
children
  • Absent radius, anogenital anomalies syndrome   771264005
  • Adrenoleukodystrophy   65389002
  • Adrenomyodystrophy   763311001
  • Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome   720982007
  • Ataxia with deafness and intellectual disability syndrome   720517001
  • Atypical Rett syndrome   718393002
  • Beta-propeller protein-associated neurodegeneration   732959007
  • Dilated cardiomyopathy 3B   702424003
  • Fabry's disease   16652001
  • Familial x-linked hypophosphatemic vitamin D refractory rickets   82236004
  • Female restricted epilepsy with intellectual disability syndrome   716706009
  • GATA binding protein 1 related thrombocytopenia with dyserythropoiesis   713388002
  • Glucose-6-phosphate dehydrogenase deficiency anemia   62403005
  • Hereditary factor IX deficiency disease   41788008
  • Hereditary factor VIII deficiency disease   28293008
  • Hereditary nephrogenic diabetes insipidus   61165007
  • Hypohidrotic X-linked ectodermal dysplasia   239007005
  • Lissencephaly type 1 due to doublecortin gene mutation   715780008
  • Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome   722459008
  • Ocular albinism, type II   266455006  removed: 2017-07-31
  • Oculo-palato-digital syndrome   205802006
  • Ogden syndrome   771442003
  • Ohdo syndrome, Maat-Kievit-Brunner type   699297004
  • Pelizaeus-Merzbacher disease   64855000
  • Placental sulfatase deficiency   3944006
  • Seemanova Lesny syndrome   715464002
  • Simpson Golabi Behmel syndrome type 2   723625009  removed: 2019-07-31
  • Solute carrier family 35 member A2 congenital disorder of glycosylation   771516000
  • Wilson Turner syndrome   719834005
  • X-linked absence of thyroxine-binding globulin   2241003
  • X-linked agammaglobulinemia   65880007
  • X-linked asexual dwarfism   57536002
  • X-linked cleft palate and ankyloglossia   766761000
  • X-linked creatine deficiency   698290008
  • X-linked distal hereditary motor neuropathy   1156840002
  • X-linked dominant hereditary disease   1162984000
  • X-linked dyskeratosis congenita   708536001
  • X-linked excess of thyroxine-binding globulin   55296004
  • X-linked hereditary motor and sensory neuropathy   230552007
  • X-linked hereditary spastic paraplegia   724775006
  • X-linked hypodontia   1003390009
  • X-linked hypoparathyroidism   237655001
  • X-linked intellectual disability Brooks type   725912001
  • X-linked intellectual disability Turner type   718912003
  • X-linked intellectual disability Wilson type   719009006
  • X-linked intellectual disability, craniofacioskeletal syndrome   773274001
  • X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome   1172692006
  • X-linked lethal multiple pterygium syndrome   763462004
  • X-linked muscular dystrophy not predominantly limb girdle   240071003
  • X-linked muscular dystrophy with limb girdle distribution   240047005
  • X-linked oligodontia   1003388008
  • X-linked optic atrophy   1231634003
  • X-linked panhypopituitarism   237683004
  • X-linked periventricular heterotopia   448227009
  • X-linked recessive hereditary disease   1162976004
  • X-linked reduction of thyroxine-binding globulin   41300001
  • X-linked retinitis pigmentosa   232054005
  • X-linked sensorineural hearing loss   232329002
  • X-linked variant form of thyroxine-binding globulin   73068003
  • Xq25 microduplication syndrome   1229872004
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

ancestors
sorted most to least specific
cpt crosswalks

Rules-based maps relating CPT® codes to and from SNOMED CT® clinical concepts.  Forward and backward mapping allows for easy transition between code sets. Map-A-Code crosswalk tool easily crosswalks multiple codes between the code sets.

Access to this feature is available in the following products:
  • CPT® to SNOMED Crosswalks

demo
request yours today
subscribe
start today
newsletter
free subscription

Thank you for choosing Find-A-Code, please Sign In to remove ads.