FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

4720007: Dystrophy (morphologic abnormality)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
784632017 Dystrophy (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core
8873011 Dystrophy en Synonym Active Case insensitive SNOMED CT core


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dystrophy Is a Degenerative abnormality true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Reunion-Indiana Amish type muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Congenital muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Western type of congenital muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Congenital muscular dystrophy with arthrogryposis multiplex congenita Associated morphology True Dystrophy Inferred relationship Some 1
Ullrich congenital muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Eichsfeld type congenital muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Hutterite type of muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Adult onset autosomal recessive muscular dystrophy with normal dystrophin Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal dominant muscular dystrophy with limb girdle distribution Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal dominant muscular dystrophy with gene located at 5q31 Associated morphology True Dystrophy Inferred relationship Some 1
Late onset proximal muscular dystrophy with dysarthria Associated morphology True Dystrophy Inferred relationship Some 1
Muscular dystrophy not predominantly limb girdle in distribution Associated morphology False Dystrophy Inferred relationship Some 1
X-linked muscular dystrophy not predominantly limb girdle Associated morphology True Dystrophy Inferred relationship Some 1
Benign scapuloperoneal muscular dystrophy with cardiomyopathy Associated morphology False Dystrophy Inferred relationship Some 1
Autosomal recessive muscular dystrophy not predominantly limb girdle Associated morphology True Dystrophy Inferred relationship Some 1
Scapulohumeral muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal dominant muscular dystrophy not predominantly limb girdle Associated morphology True Dystrophy Inferred relationship Some 1
Benign scapuloperoneal muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Severe scapuloperoneal muscular dystrophy with cardiomyopathy Associated morphology False Dystrophy Inferred relationship Some 1
Benign congenital muscular dystrophy with finger flexion contractures Associated morphology True Dystrophy Inferred relationship Some 1
Distal muscular dystrophy with adult onset Associated morphology False Dystrophy Inferred relationship Some 1
Muscular dystrophy-deafmutism syndrome Associated morphology False Dystrophy Inferred relationship Some 1
Congenital hereditary muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Fukuyama congenital muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Merosin deficient congenital muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Walker-Warburg congenital muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 3
Muscle-eye-brain disease, congenital muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 2
Distal muscular dystrophy, Miyoshi type Associated morphology True Dystrophy Inferred relationship Some 1
Emery-Dreifuss muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Severe childhood autosomal recessive muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Congenital muscular hypertrophy-cerebral syndrome Associated morphology True Dystrophy Inferred relationship Some 1
Distal muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Ocular muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Oculopharyngeal muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Erb's muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Limb-girdle muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Benign congenital myopathy Associated morphology False Dystrophy Inferred relationship Some 1
Hereditary progressive muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Pelvic muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Menopausal muscular dystrophy syndrome Associated morphology False Dystrophy Inferred relationship Some 1
Scapuloperoneal muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Congenital hereditary muscular dystrophy NOS Associated morphology False Dystrophy Inferred relationship Some 1
Other limb girdle muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Hereditary progressive muscular dystrophy NOS Associated morphology False Dystrophy Inferred relationship Some 1
Other specified hereditary progressive muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Becker muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Facioscapulohumeral muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Chondrodystrophy malacia Associated morphology False Dystrophy Inferred relationship Some 1
Galactosylceramide beta-galactosidase deficiency Associated morphology False Dystrophy Inferred relationship Some 1
Schultz disease Associated morphology False Dystrophy Inferred relationship Some 1
Neuroaxonal leucodystrophy Associated morphology False Dystrophy Inferred relationship Some 2
Type III transitional Pelizaeus-Merzbacher disease Associated morphology False Dystrophy Inferred relationship Some 1
Type IV adult Pelizaeus-Merzbacher disease Associated morphology False Dystrophy Inferred relationship Some 1
Type V atypical Pelizaeus-Merzbacher disease Associated morphology False Dystrophy Inferred relationship Some 1
Type VI Cockayne Pelizaeus-Merzbacher disease Associated morphology False Dystrophy Inferred relationship Some 1
Leucodystrophy without a known biochemical basis Associated morphology False Dystrophy Inferred relationship Some 1
Cogan-Reese syndrome Associated morphology False Dystrophy Inferred relationship Some 1
Juvenile epithelial corneal dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Microscopic cystic corneal dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Globoid cell leucodystrophy, late-onset Associated morphology False Dystrophy Inferred relationship Some 1
Dalmatian leukodystrophy Associated morphology False Dystrophy Inferred relationship Some 2
Pelizaeus-Merzbacher disease, connatal variant Associated morphology False Dystrophy Inferred relationship Some 1
Pelizaeus-Merzbacher disease Associated morphology False Dystrophy Inferred relationship Some 1
Alexander's disease Associated morphology False Dystrophy Inferred relationship Some 2
Pelizaeus-Merzbacher disease, classic form Associated morphology False Dystrophy Inferred relationship Some 1
Leucodystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Leucodystrophy NOS Associated morphology False Dystrophy Inferred relationship Some 1
Chondrodystrophy malacia Associated morphology False Dystrophy Inferred relationship Some 1
Chondrodystrophy malacia Associated morphology False Dystrophy Inferred relationship Some 3
Phytanic acid storage disease Associated morphology False Dystrophy Inferred relationship Some 1
Congenital hereditary endothelial dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Congenital hereditary endothelial dystrophy type 1 Associated morphology False Dystrophy Inferred relationship Some 1
Congenital hereditary endothelial dystrophy type 2 Associated morphology False Dystrophy Inferred relationship Some 1
Fleck corneal dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
O/E - Horner's syndrome Associated morphology False Dystrophy Inferred relationship Some 1
Oculopharyngeal muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Pelizaeus-Merzbacher disease Associated morphology False Dystrophy Inferred relationship Some 1
Pelizaeus-Merzbacher disease, connatal variant Associated morphology False Dystrophy Inferred relationship Some 1
Thiel-Behnke corneal dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Leucodystrophy NOS Associated morphology False Dystrophy Inferred relationship Some 1
Acquired generalised lipodystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Leucodystrophy without a known biochemical basis Associated morphology False Dystrophy Inferred relationship Some 1
Scapuloperoneal muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Primary hair dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Schnyder crystalline cornea dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Muscular dystrophy with predominantly proximal limb girdle distribution Associated morphology True Dystrophy Inferred relationship Some 1
Acquired partial lipodystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Severe childhood autosomal recessive muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Lattice corneal dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Phytanic acid storage disease Associated morphology False Dystrophy Inferred relationship Some 1
Steinert myotonic dystrophy syndrome Associated morphology True Dystrophy Inferred relationship Some 1
Pelvic muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Squamous cell hyperplasia of vulva Associated morphology True Dystrophy Inferred relationship Some 1
Crocodile shagreen of cornea Associated morphology False Dystrophy Inferred relationship Some 1
Hereditary progressive muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Reis-Bucklers' corneal dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Corneal dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Lattice corneal dystrophy Type I Associated morphology False Dystrophy Inferred relationship Some 1
Benign congenital myopathy Associated morphology False Dystrophy Inferred relationship Some 1
Congenital generalised lipodystrophy Associated morphology False Dystrophy Inferred relationship Some 1

Start Previous Page 3 of 8 Next End


Reference Sets

Body structure foundation reference set

Australian dialect reference set

Back to Start