Congenital hereditary muscular dystrophy 111501005 SNOMED CT code SNOMED code 111501005 name Congenital hereditary muscular dystrophy status active date introduced 2002-01-31 fully specified name(s) Congenital hereditary muscular dystrophy (disorder) synonyms Congenital hereditary muscular dystrophy attributes - group1 Occurrence Congenital 255399007 Pathological process Pathological developmental process 308490002 Associated morphology Dystrophy 4720007 Finding site Skeletal muscle structure 127954009 attributes - group2 Clinical course Progressive 255314001 parents Hereditary progressive muscular dystrophy 193225000 Congenital anomaly of skeletal muscle 89886004 children Autosomal dominant muscular dystrophy not predominantly limb girdle 240075007 Autosomal recessive muscular dystrophy not predominantly limb girdle 240073000 Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein 240055003 Autosomal recessive muscular dystrophy with gene located at 15q 240057006 removed: 2020-01-31 Autosomal recessive myogenic arthrogryposis multiplex congenita 764812008 Bethlem myopathy 718572004 Congenital muscular dystrophy due to LMNA mutation 771272007 Congenital muscular dystrophy Paradas type 725420009 Congenital muscular dystrophy type 1A 787037000 Congenital muscular dystrophy type 1B 764944006 Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation 890368007 Congenital muscular dystrophy type 1D large gene mutation 890395002 Congenital muscular dystrophy with arthrogryposis multiplex congenita 240061000 Congenital muscular dystrophy with cerebellar involvement 783176002 Congenital muscular dystrophy with hyperlaxity 763314009 Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome 715429006 Congenital muscular dystrophy with integrin alpha-7 deficiency 771267003 Congenital muscular dystrophy with intellectual disability 783174004 Congenital muscular dystrophy with intellectual disability and severe epilepsy 782772000 Congenital muscular dystrophy without intellectual disability 783175003 Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome 1172688004 Congenital muscular hypertrophy-cerebral syndrome 55016009 Congenital myotonic dystrophy 240104008 Early onset myopathy with fatal cardiomyopathy 702343002 Eichsfeld type congenital muscular dystrophy 240063002 Epidermolysis bullosa simplex with muscular dystrophy 723308003 Hutterite type of muscular dystrophy 240064008 Megaconial congenital muscular dystrophy 1230273004 Merosin deficient congenital muscular dystrophy 111503008 Muscle eye brain disease with bilateral multicystic leukodystrophy 785298001 Muscle-eye-brain disease, congenital muscular dystrophy 111505001 Reunion-Indiana Amish type muscular dystrophy 240058001 Ullrich congenital muscular dystrophy 240062007 Walker-Warburg congenital muscular dystrophy 111504002 Western type of congenital muscular dystrophy 240060004 X-linked muscular dystrophy not predominantly limb girdle 240071003 X-linked muscular dystrophy with limb girdle distribution 240047005 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 64572001 5294002 363070008 193225000 111501005 138875005 404684003 106030000 129565002 75047002 89886004 111501005 ancestors sorted most to least specific
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