Congenital anomaly of skeletal muscle

Code	`89886004`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20020131

205365003Aberrant muscle of the lower limb disorder

253916007Aberrant muscle of the upper limb disorder

50847000Accessory skeletal muscle disorder

75491005Amyotrophia congenita disorder

1345055005Asymmetric crying facies syndrome disorder

193222002Benign congenital myopathy disorder

43152001Central core disease disorder

277949001Combined malformation of central nervous system and skeletal muscle disorder

38776003Congenital absence of skeletal muscle disorder

88386004Congenital anomaly of diaphragm disorder

24963004Congenital anomaly of sternocleidomastoid muscle disorder

427103005Congenital contracture of gastrocnemius muscle disorder

400946004Congenital fibrosis syndrome disorder

111501005Congenital hereditary muscular dystrophy disorder

1144571008Congenital hypoplasia of muscle of abdominal wall disorder

1145377004Congenital hypoplasia of muscle of limb disorder

1144573006Congenital hypoplasia of muscle of neck disorder

1144572001Congenital hypoplasia of muscle of pelvis disorder

1144576003Congenital hypoplasia of pectoral muscle disorder

773306002Congenital lethal myopathy Compton North type disorder

68186003Congenital myopathy with abnormal subcellular organelles disorder

764945007Congenital myopathy with internal nuclei and atypical cores disorder

763315005Congenital myopathy with myasthenic-like onset disorder

429753001Congenital nonprogressive myopathy with Moebius and Robin sequences disorder

764525006Cylindrical spirals myopathy disorder

1236844002Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome disorder

718713000Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome disorder

204217005Hypoplasia of eye muscle disorder

722456001Intellectual disability, developmental delay, contracture syndrome disorder

764959000Intellectual disability, myopathy, short stature, endocrine defect syndrome disorder

1345054009Isolated asymmetric crying facies disorder

764957003King Denborough syndrome disorder

1217225001Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome disorder

715419004Lethal congenital contracture syndrome type 2 disorder

763346009Lethal congenital contracture syndrome type 5 disorder

60192008Lethal multiple pterygium syndrome disorder

719398004Malignant hyperthermia with arthrogryposis and torticollis syndrome disorder

55133004Multi-core congenital myopathy disorder

1255116001Myopathic Ehlers-Danlos syndrome disorder

240082006Myopathy with abnormality of histochemical fibre type disorder

240086009Myopathy with cytoplasmic inclusions disorder

82077006Myotubular myopathy disorder

723439002Native American myopathy disorder

721887007Puerto Rican infant hypotonia syndrome disorder

43226001Sarcotubular myopathy disorder

1187212004Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome disorder

232112009Strabismus fixus disorder

771266007Torticollis, keloids, cryptorchidism, renal dysplasia syndrome disorder

34513009Zebra body myopathy disorder

Congenital anomaly of skeletal muscle

Parents (2)

Children (49)