SNOMED Clinical Terms - Dystrophy - Terms | NCBO BioPortal

SNOMED Clinical Terms Summary

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Preferred Name	Dystrophy
Synonyms	Dystrophy (morphologic abnormality) Defective nutrition, NOS Dystrophy, NOS
ID	4720007
Full Id	http://purl.bioontology.org/ontology/SNOMEDCT/4720007
associated_morphology_of	Bietti's crystalline retinopathy Nail dystrophy due to lichen striatus O/E - Horner's syndrome Dystrophic cardiomyopathy Merosin deficient congenital muscular dystrophy Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein Nail dystrophy due to trauma Koilonychia Autosomal recessive muscular dystrophy not predominantly limb girdle Cogan-Reese syndrome Dystrophia unguium, partial Nail dystrophy due to graft-versus-host disease Nail dystrophy due to Darier's disease Crocodile shagreen of cornea Eggshell nails Posterior crocodile shagreen of cornea Idiopathic hair dystrophy Type VI Cockayne Pelizaeus-Merzbacher disease Median nail dystrophy of Heller Ullrich congenital muscular dystrophy Lattice corneal dystrophy Type I Pelizaeus-Merzbacher disease, connatal variant Benign congenital muscular dystrophy with finger flexion contractures Type IV adult Pelizaeus-Merzbacher disease Emery-Dreifuss muscular dystrophy Lipodystrophy of face Lattice corneal dystrophy, isolated form Lattice corneal dystrophy Type II Becker muscular dystrophy Chandler syndrome X-linked limb girdle muscular dystrophy with normal dystrophin Distal muscular dystrophy with juvenile onset Pelizaeus-Merzbacher disease, classic form Algodystrophy Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes Beau's lines Intermediate X-linked muscular dystrophy Mucopolysaccharidosis, MPS-IV-A Lamellar nail splitting Schnyder crystalline cornea dystrophy Lipodystrophy, partial, with Rieger anomaly, short stature, and insulinopenic diabetes mellitus Autosomal dominant muscular dystrophy with limb girdle distribution Lipodystrophy Gelatinous droplike corneal dystrophy Dystrophy of anterior cornea Combined corneal dystrophy Congenital muscular hypertrophy-cerebral syndrome Lupoid onychodystrophy Scapuloperoneal muscular dystrophy Macular corneal dystrophy Type II Familial partial lipodystrophy Cervical sympathetic dystrophy Pelizaeus-Merzbacher disease Triphalangeal thumbs with onychodystrophy Leukodystrophy Scapulohumeral muscular dystrophy Microscopic cystic corneal dystrophy Severe autosomal recessive muscular dystrophy of childhood - North African type Walker-Warburg congenital muscular dystrophy Congenital hereditary endothelial dystrophy,CHED 2 Nail dystrophy due to benign familial pemphigus Adult onset autosomal dominant leukodystrophy Idiopathic atrophy of nail in childhood Corneal epithelial dystrophy Menopausal muscular dystrophy syndrome Ring-like corneal dystrophy Onychogryposis Congenital hereditary endothelial dystrophy Hypertrophy of toenail Partial face-sparing lipodystrophy Twenty nail dystrophy Congenital total lipodystrophy Muscular dystrophy Eichsfeld type congenital muscular dystrophy Onychatrophy due to lichen planus Thiel-Behnke corneal dystrophy Traumatic onycholysis Pre-descemet's corneal dystrophy Distal muscular dystrophy with adult onset Congenital hereditary endothelial dystrophy,CHED 1 Nail dystrophy due to nail biting Avellino corneal dystrophy Muscular dystrophy-deafmutism syndrome Leucodystrophy without a known biochemical basis Nail dystrophy due to pityriasis rubra pilaris Muscular dystrophy not predominantly limb girdle in distribution Ji muscular dystrophy Autosomal dominant muscular dystrophy with gene located at 5q31 Macular corneal dystrophy Type I Polymorphous corneal dystrophy O/E - nails - pitting Nail dystrophy due to sarcoidosis Hair dystrophy Lipoatrophic diabetes Lattice corneal dystrophy Type III Lupus erythematosus-associated nail dystrophy Macular corneal dystrophy Galactosylceramide beta-galactosidase deficiency Autosomal dominant muscular dystrophy not predominantly limb girdle Autosomal recessive muscular dystrophy with gene located at 15q Psoriatic nail dystrophy Onychoatrophy Dystrophia unguium Muscle-eye-brain disease, congenital muscular dystrophy Nail dystrophy associated with dermatological disease Elkonyxis Scleroderma-associated nail dystrophy Dalmatian leukodystrophy Dystrophy of vulva Reis-Bucklers' corneal dystrophy Hereditary corneal dystrophy Globoid cell leukodystrophy, late-onset Hutterite type of muscular dystrophy Distal muscular dystrophy Hereditary progressive muscular dystrophy Robinson nail dystrophy-deafness syndrome Muscular dystrophy with predominantly proximal limb girdle distribution Congenital koilonychia Fleck corneal dystrophy Nail dystrophy due to nail picking Nail dystrophy due to habit tic Severe childhood autosomal recessive muscular dystrophy Hereditary myopathy limited to females Membranous lipodystrophy Nail dystrophy associated with bullous dermatoses Congenital hereditary muscular dystrophy X-linked muscular dystrophy not predominantly limb girdle Racket nail Late onset proximal muscular dystrophy with dysarthria Ocular muscular dystrophy Acquired koilonychia Corneal endothelial dystrophy Corneal dystrophy Meesman's corneal dystrophy Median canaliform nail dystrophy Fuchs' corneal dystrophy Eggshell nail Lichen sclerosus et atrophicus of the vulva Primary hair dystrophy Facioscapulohumeral muscular dystrophy Mucopolysaccharidosis, MPS-IV-B Western type of congenital muscular dystrophy Neuraxonal leucodystrophy Benign scapuloperoneal muscular dystrophy Psoriatic nail pitting Nail dystrophy due to secondary syphilis Schultz disease Reunion-Indiana Amish type muscular dystrophy Distal muscular dystrophy, Miyoshi type Oculopharyngeal muscular dystrophy Alexander's disease Pitting of nails Stromal corneal dystrophy Adult onset autosomal recessive muscular dystrophy with normal dystrophin X-linked muscular dystrophy with limb girdle distribution Central cloudy dystrophy of Francois Hypertrophy of nail Nail dystrophy due to lichen nitidus Irido-corneo-endothelial syndrome Longitudinal split nail Phytanic acid storage disease Anterior crocodile shagreen of cornea Cutis laxa with osteodystrophy Erb's muscular dystrophy Crystalline corneal dystrophy Benign scapuloperoneal muscular dystrophy with cardiomyopathy Autosomal recessive muscular dystrophy with limb girdle distribution Fukuyama congenital muscular dystrophy Granular corneal dystrophy Lipodystrophy associated with Human immunodeficiency virus infection Dystrophia unguium, total Morquio syndrome Secondary hair dystrophy Metachromatic leukodystrophy, adult type Type V atypical Pelizaeus-Merzbacher disease Acquired partial lipodystrophy Benign congenital myopathy Congenital total lipoatrophy Hepatosis dietetica Congenital muscular dystrophy Nutcracker nails Adiposa cornea dystrophy Congenital muscular dystrophy with arthrogryposis multiplex congenita Type III transitional Pelizaeus-Merzbacher disease Severe scapuloperoneal muscular dystrophy with cardiomyopathy Limb-girdle muscular dystrophy Acquired generalized lipodystrophy Steinert myotonic dystrophy syndrome Congenital onychauxis Squamous cell hyperplasia of vulva Manifesting female carrier of X-linked muscular dystrophy Pelvic muscular dystrophy Familial amyloid neuropathy, Finnish type Congenital macular corneal dystrophy Median nail dystrophy Groenouw corneal dystrophy type I X-linked muscular dystrophy with abnormal dystrophin
CONCEPTSTATUS	0
CTV3ID	XUEl9
isa	Degenerative abnormality
ISPRIMITIVE	1
Semantic_Type	Pathologic Function Finding
SNOMEDID	M-56000
SYNONYM FN	Dystrophy (morphologic abnormality)
SYNONYM IS	Defective nutrition, NOS Dystrophy, NOS
TUI	T046 T033
UMLS_CUI	C0333606 C1536485

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Mapping To	Ontology	Source	Comment	Relationship	Added By	Added On	Notes
http://purl.obolibrary.org/obo/MPATH_554	Mouse pathology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Dystrophy	RAPID Phenotype Ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes

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