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Congenital anomaly of skeletal muscle 89886004 SNOMED CT code SNOMED code 89886004 name Congenital anomaly of skeletal muscle status active date introduced 2002-01-31 fully specified name(s) Congenital anomaly of skeletal muscle (disorder) synonyms Congenital anomaly of skeletal muscle attributes - group1 Pathological process Pathological developmental process 308490002 Associated morphology Morphologically abnormal structure 49755003 Finding site Skeletal muscle structure 127954009 Occurrence Congenital 255399007 parents Disorder of skeletal muscle 75047002 Congenital anomaly of muscle AND/OR tendon 79191007 children Aberrant muscle of the lower limb 205365003 Aberrant muscle of the upper limb 253916007 Accessory skeletal muscle 50847000 Amyotrophia congenita 75491005 Amyotrophica congenita 205529007 removed: 2003-01-31 Asymmetric crying face association 51409009 Benign congenital myopathy 193222002 Central core disease 43152001 Combined malformation of central nervous system and skeletal muscle 277949001 Congenital absence of skeletal muscle 38776003 Congenital anomaly of diaphragm 88386004 Congenital anomaly of sternocleidomastoid muscle 24963004 Congenital contracture of gastrocnemius muscle 427103005 Congenital fibrosis syndrome 400946004 Congenital hereditary muscular dystrophy 111501005 Congenital lethal myopathy Compton North type 773306002 Congenital myopathy with abnormal subcellular organelles 68186003 Congenital myopathy with internal nuclei and atypical cores 764945007 Congenital myopathy with myasthenic-like onset 763315005 Congenital nonprogressive myopathy with Moebius and Robin sequences 429753001 Cylindrical spirals myopathy 764525006 Duane anomaly, myopathy, scoliosis syndrome 722432000 Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome 1236844002 Floppy infant syndrome 33010005 Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome 718713000 Hypoplasia of eye muscle 204217005 Intellectual disability, developmental delay, contracture syndrome 722456001 Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000 King Denborough syndrome 764957003 Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome 1217225001 Lethal congenital contracture syndrome type 2 715419004 Lethal congenital contracture syndrome type 5 763346009 Lethal multiple pterygium syndrome 60192008 Malignant hyperthermia with arthrogryposis and torticollis syndrome 719398004 Multi-core congenital myopathy 55133004 Myopathic Ehlers-Danlos syndrome 1255116001 Myopathy with abnormality of histochemical fiber type 240082006 Myopathy with cytoplasmic inclusions 240086009 Myotubular myopathy 82077006 Native American myopathy 723439002 Puerto Rican infant hypotonia syndrome 721887007 Sarcotubular myopathy 43226001 Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome 1187212004 Strabismus fixus 232112009 Torticollis, keloids, cryptorchidism, renal dysplasia syndrome 771266007 Zebra body myopathy 34513009 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 106030000 129565002 75047002 89886004 138875005 404684003 106028002 928000 73573004 79191007 89886004 ancestors sorted most to least specific
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