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89886004: Congenital anomaly of skeletal muscle (disorder)

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

Descriptions:

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

161 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of skeletal muscle Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of skeletal muscle morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Congenital anomaly of skeletal muscle morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of skeletal muscle localisation d'une constatation (attribut) Skeletal muscle system structure false Inferred relationship Some
Congenital anomaly of skeletal muscle est un(e) (attribut) affection d'un muscle squelettique true Inferred relationship Some
Congenital anomaly of skeletal muscle localisation d'une constatation (attribut) structure de muscle squelettique false Inferred relationship Some 1
Congenital anomaly of skeletal muscle est un(e) (attribut) lésion d'une structure de muscle squelettique false Inferred relationship Some
Congenital anomaly of skeletal muscle est un(e) (attribut) Congenital anomaly of musculoskeletal system false Inferred relationship Some
Congenital anomaly of skeletal muscle est un(e) (attribut) affection d'un muscle squelettique false Inferred relationship Some
Congenital anomaly of skeletal muscle est un(e) (attribut) lésion de tissu mou false Inferred relationship Some
Congenital anomaly of skeletal muscle morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of skeletal muscle localisation d'une constatation (attribut) structure de muscle squelettique true Inferred relationship Some 1
Congenital anomaly of skeletal muscle survenue (attribut) congénital false Inferred relationship Some 2
Congenital anomaly of skeletal muscle morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
Congenital anomaly of skeletal muscle localisation d'une constatation (attribut) structure de muscle squelettique false Inferred relationship Some 2
Congenital anomaly of skeletal muscle est un(e) (attribut) Congenital anomaly of muscle AND/OR tendon true Inferred relationship Some
Congenital anomaly of skeletal muscle survenue (attribut) congénital true Inferred relationship Some 1
Congenital anomaly of skeletal muscle survenue (attribut) congénital false Inferred relationship Some
Congenital anomaly of skeletal muscle localisation d'une constatation (attribut) structure de muscle squelettique false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
tophus goutteux d'un tendon est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Intellectual disability, developmental delay, contracture syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Epidermolysis bullosa simplex with muscular dystrophy (disorder) est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital lethal myopathy Compton North type est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Myopathy with cytoplasmic inclusions est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Lethal congenital contracture syndrome type 2 (disorder) est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Asymmetric crying face association (disorder) est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital articular rigidity with myopathy est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
hypotonie congénitale bénigne est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Myopathy with abnormality of histochemical fibre type est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Hereditary myositis ossificans est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital hereditary muscular dystrophy est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital eventration of diaphragm est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
hernie diaphragmatique congénitale est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital fiber type disproportion myopathy est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
syndrome du nourrisson mou (trouble) est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
myopathie à corps zébrés (trouble) est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Glycogen storage disease type VIII est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
myopathie congénitale à "central cores" (trouble) est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Sarcotubular myopathy est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital hiatus hernia est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital muscular hypertrophy-cerebral syndrome (disorder) est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Multi-core congenital myopathy (disorder) est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Glycogen storage disease, hepatic form est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Glycogenosis with glucoaminophosphaturia est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital hyperplasia of muscle est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Mixed congenital myopathy est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital myopathy with abnormal subcellular organelles est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Glycogen storage disease, type I est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Nemaline myopathy est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Myotubular myopathy est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Triglyceride storage disease with ichthyosis est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Distal arthrogryposis syndrome est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital anomaly of sternocleidomastoid muscle est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
syndrome de Kearns-Sayre (trouble) est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
maladie de stockage du glycogène (trouble) est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital absence of skeletal muscle est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
raccourcissement congénital d'un tendon est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Steinert myotonic dystrophy syndrome est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital anomaly of diaphragm est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Accessory skeletal muscle (disorder) est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital trigger thumb est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Aberrant muscle of the lower limb est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Leber's optic atrophy (disorder) est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital fibrosis syndrome (disorder) est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Xanthoma tendinosum est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Amyotrophia congenita est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Amyoplasia congenita disruptive sequence est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Steinert myotonic dystrophy syndrome est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Progressive myositis ossificans est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Supernumerary eye muscle est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital anomaly of diaphragm est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Muscle AMP deaminase deficiency est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Multiple supernumerary eye muscles est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Hypoplasia of eye muscle est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Amyotrophica congenita est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
contraction congénitale du muscle gastrocnémien est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Myoclonic epilepsy with ragged red fibers est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital failure of eye elevation est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Infantile botulism est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital absence of abdominal muscle est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Hypoplasia of eye muscle est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Lipid storage myopathy est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Strabismus fixus est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital fibrosis syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Acro-pectoro-renal dysplasia est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some
Puerto Rican infant hypotonia syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome (disorder) est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Native American myopathy est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Aberrant muscle of the upper limb est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital myopathy with myasthenic-like onset (disorder) est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
forme létale du syndrome des ptérygiums multiples (trouble) est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Cylindrical spirals myopathy (disorder) est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital myopathy with internal nuclei and atypical cores (disorder) est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
King Denborough syndrome est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Combined malformation of central nervous system and skeletal muscle (disorder) est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Benign congenital myopathy est un(e) (attribut) True Congenital anomaly of skeletal muscle Inferred relationship Some
Digital extensor muscle aplasia with polyneuropathy (disorder) est un(e) (attribut) False Congenital anomaly of skeletal muscle Inferred relationship Some

This concept is not in any reference sets

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