FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

89886004: Congenital anomaly of skeletal muscle (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
149003012 Congenital anomaly of skeletal muscle en Synonym Active Entire term case insensitive SNOMED CT core module
149004018 Congenital anomaly of skeletal muscle, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
832873019 Congenital anomaly of skeletal muscle (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

168 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of skeletal muscle Is a Congenital anomaly of musculoskeletal system false Inferred relationship Existential restriction modifier
Congenital anomaly of skeletal muscle Is a Disorder of skeletal muscle false Inferred relationship Existential restriction modifier
Congenital anomaly of skeletal muscle Occurrence Congenital false Inferred relationship Existential restriction modifier
Congenital anomaly of skeletal muscle Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier
Congenital anomaly of skeletal muscle Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal muscle Finding site Skeletal muscle system structure false Inferred relationship Existential restriction modifier
Congenital anomaly of skeletal muscle Is a Disorder of skeletal muscle true Inferred relationship Existential restriction modifier
Congenital anomaly of skeletal muscle Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal muscle Is a Lesion of skeletal muscle false Inferred relationship Existential restriction modifier
Congenital anomaly of skeletal muscle Is a Soft tissue lesion false Inferred relationship Existential restriction modifier
Congenital anomaly of skeletal muscle Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal muscle Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal muscle Occurrence Congenital false Inferred relationship Existential restriction modifier 2
Congenital anomaly of skeletal muscle Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 2
Congenital anomaly of skeletal muscle Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier 2
Congenital anomaly of skeletal muscle Is a Congenital anomaly of muscle AND/OR tendon true Inferred relationship Existential restriction modifier
Congenital anomaly of skeletal muscle Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal muscle Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal muscle Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital trigger thumb Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Aberrant muscle of the lower limb Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Myoclonic epilepsy with ragged red fibers Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital failure of eye elevation Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Infantile botulism Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Lipid storage myopathy Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Aberrant muscle of the upper limb Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Combined malformation of central nervous system and skeletal muscle Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Tophus of tendon co-occurrent and due to gout Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital articular rigidity with myopathy Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Triglyceride storage disease with ichthyosis Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Distal arthrogryposis syndrome Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital anomaly of sternocleidomastoid muscle Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Kearns-Sayre syndrome Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Glycogen storage disease Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital absence of skeletal muscle Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital shortening of tendon Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Accessory skeletal muscle Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Leber's optic atrophy Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Xanthoma tendinosum Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Amyotrophia congenita Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Amyoplasia congenita disruptive sequence Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Steinert myotonic dystrophy syndrome Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Progressive myositis ossificans Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Supernumerary eye muscle Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital anomaly of diaphragm Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Muscle adenosine monophosphate deaminase deficiency Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Multiple supernumerary eye muscles Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Hypoplasia of eye muscle Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Amyotrophica congenita Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Benign congenital hypotonia Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Myopathy with abnormality of histochemical fiber type Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Hereditary myositis ossificans Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital hereditary muscular dystrophy Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital eventration of diaphragm Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital diaphragmatic hernia Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital fiber type disproportion myopathy Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Floppy infant syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Zebra body myopathy Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Glycogen storage disease type VIII Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Central core disease Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Sarcotubular myopathy Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital hiatus hernia Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital muscular hypertrophy-cerebral syndrome Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Multi-core congenital myopathy Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Glycogen storage disease, hepatic form Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Glycogenosis with glucoaminophosphaturia Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital hyperplasia of muscle Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Mixed congenital myopathy Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital myopathy with abnormal subcellular organelles Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Glycogen storage disease, type I Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Nemaline myopathy Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Myotubular myopathy Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Steinert myotonic dystrophy syndrome Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital anomaly of diaphragm Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital fibrosis syndrome Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital nonprogressive myopathy with Moebius and Robin sequences Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital contracture of gastrocnemius muscle Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital absence of abdominal muscle Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Hypoplasia of eye muscle Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Strabismus fixus Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital fibrosis syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Acropectororenal dysplasia Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Puerto Rican infant hypotonia syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Duane anomaly, myopathy, scoliosis syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Native American myopathy Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital myopathy with myasthenic-like onset Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Fetal akinesia, cerebral and retinal hemorrhage syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Lethal multiple pterygium syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Cylindrical spirals myopathy Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital myopathy with internal nuclei and atypical cores Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
King Denborough syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Benign congenital myopathy Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Digital extensor muscle aplasia with polyneuropathy Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Malignant hyperthermia with arthrogryposis and torticollis syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Intellectual disability, developmental delay, contracture syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Epidermolysis bullosa simplex with muscular dystrophy Is a False Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Congenital lethal myopathy Compton North type Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Myopathy with cytoplasmic inclusions Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Lethal congenital contracture syndrome type 2 Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Asymmetric crying face association Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier
Myopathic Ehlers-Danlos syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Existential restriction modifier

This concept is not in any reference sets

Back to Start