CPT Changes
Current book and archives back to 2000 Easy-to-read online book format Linked to and from code details
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X-linked hereditary disease 128430005 SNOMED CT code SNOMED code 128430005 name X-linked hereditary disease status active date introduced 2002-01-31 fully specified name(s) X-linked hereditary disease (disorder) synonyms X-linked hereditary disease parents Sex-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
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