4720007: Dystrophy (morphologic abnormality)

SNOMED CT Concept\Body structure\Body structure, altered from its original anatomical structure (morphologic abnormality)\Morphologically abnormal structure\Degenerative abnormality\Dystrophy

Status: current, Not 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

8873011 Dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

784632017 Dystrophy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2609781000005119 dystrofi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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
Hyperplastic dystrophy	Is a	True	Dystrophy	Inferred relationship	Some
Pseudohypertrophic dystrophy	Is a	True	Dystrophy	Inferred relationship	Some
Lipodystrophy, partial, with Rieger anomaly, short stature, and insulinopenic diabetes mellitus (disorder)	Associated morphology	False	Dystrophy	Inferred relationship	Some	2
Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes	Associated morphology	False	Dystrophy	Inferred relationship	Some	2
Mucopolysaccharidosis, MPS-IV-B	Associated morphology	False	Dystrophy	Inferred relationship	Some
Median nail dystrophy of Heller (disorder)	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Congenital myotonic dystrophy	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Squamous cell hyperplasia of vulva	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Congenital total lipodystrophy (disorder)	Associated morphology	False	Dystrophy	Inferred relationship	Some	2
Bietti's crystalline retinopathy	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Hair dystrophy	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Primary hair dystrophy (disorder)	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Secondary hair dystrophy	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Idiopathic hair dystrophy	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Lipoatrophic diabetes	Associated morphology	False	Dystrophy	Inferred relationship	Some	2
cervikal sympatisk dystrofi	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Late-infantile neuronal ceroid lipofuscinosis	Associated morphology	False	Dystrophy	Inferred relationship	Some
Kraurosis vulvae	Associated morphology	False	Dystrophy	Inferred relationship	Some	2
Robinson nail dystrophy-deafness syndrome	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Dilated cardiomyopathy due to myotonic dystrophy (disorder)	Associated morphology	False	Dystrophy	Inferred relationship	Some
Schwartz-Jampel syndrome	Associated morphology	False	Dystrophy	Inferred relationship	Some
Morquio syndrome	Associated morphology	False	Dystrophy	Inferred relationship	Some
Neuronal ceroid lipofuscinosis	Associated morphology	False	Dystrophy	Inferred relationship	Some
Hepatosis dietetica	Associated morphology	False	Dystrophy	Inferred relationship	Some
Familial partial lipodystrophy	Associated morphology	False	Dystrophy	Inferred relationship	Some	2
Refleksdystrofi	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Dystrophy of vulva	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Infantile neuronal ceroid lipofuscinosis	Associated morphology	False	Dystrophy	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	Associated morphology	False	Dystrophy	Inferred relationship	Some
Adult neuronal ceroid lipofuscinosis	Associated morphology	False	Dystrophy	Inferred relationship	Some
Lipodystrophy	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Mucopolysaccharidosis, MPS-IV-A	Associated morphology	False	Dystrophy	Inferred relationship	Some
Cutis laxa with osteodystrophy	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
A short-rib dysplasia with characteristics of narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. In rare cases, postaxial polydactyly may also be present. The narrow thorax may cause neonatal respiratory failure, and may be associated with persistent respiratory manifestations. The growth rate is variable but may be almost normal. Intellectual development is normal. The molecular basis of the syndrome has been partially elucidated indicating involvement of the IFT80 (3q25.33), DYNC2H1 (11q22.3), WDR19 (4p14) and TTC21B (2q24.3) genes, each encoding an intraflagellar transport protein. The syndrome is transmitted as an autosomal recessive trait.	Associated morphology	False	Dystrophy	Inferred relationship	Some
Acquired partial lipodystrophy	Associated morphology	False	Dystrophy	Inferred relationship	Some	2
Steinert myotonic dystrophy syndrome	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Chondrodystrophia malacia	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Median nail dystrophy (disorder)	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Acquired generalized lipodystrophy	Associated morphology	False	Dystrophy	Inferred relationship	Some	2
Partial face-sparing lipodystrophy	Associated morphology	False	Dystrophy	Inferred relationship	Some	2
Lipodystrophy NOS	Associated morphology	False	Dystrophy	Inferred relationship	Some	2
dystrofi af vulva, ikke nærmere specificeret	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Membranous lipodystrophy	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Median canaliform nail dystrophy	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Dystrophic cardiomyopathy	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Fuchs' corneal dystrophy	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
irido-corneo-endothelial syndrome	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Polymorphous corneal dystrophy	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
A rare disorder of the eye in which the endothelium lining the interior of the cornea proliferates causing unusually high pressure in the eye, distortion of the iris and corneal oedema.	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Chondrodystrophia malacia	Associated morphology	False	Dystrophy	Inferred relationship	Some	3
Chondrodystrophia malacia	Associated morphology	False	Dystrophy	Inferred relationship	Some	2
Kongenit total lipoatrofi	Associated morphology	False	Dystrophy	Inferred relationship	Some	2
Chondrodystrophia malacia	Associated morphology	False	Dystrophy	Inferred relationship	Some	2
Distal muscular dystrophy with juvenile onset	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Muscular dystrophy with predominantly proximal limb girdle distribution	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
X-linked muscular dystrophy with limb girdle distribution	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
X-linked muscular dystrophy with abnormal dystrophin	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Intermediate X-linked muscular dystrophy (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Manifesting female carrier of X-linked muscular dystrophy	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
X-linked limb girdle muscular dystrophy with normal dystrophin	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Jis muskeldystrofi	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Hereditary myopathy limited to females	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Autosomal recessive muscular dystrophy with limb girdle distribution	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Alvorlig autosomal recessiv muskeldystrofi i barnealderen – nordafrikansk type	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Autosomal recessiv muskeldystrofi forårsaget af gen med locus på kromosom 15q	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Reunion-Indiana Amish type muscular dystrophy	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Kongenit muskeldystrofi	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 (disorder)	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 (disorder)	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 skapuloperoneal muskeldystrofi med kardiomyopati	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 (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Distal muskeldystrofi med debut i voksenalder	Associated morphology	False	Dystrophy	Inferred relationship	Some	1
Muskeldystrofi – døvstumhedssyndrom	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 (disorder)	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
Okulær muskeldystrofi	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

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Id	Description	Lang	Type	Status	Case?	Module
8873011	Dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
784632017	Dystrophy (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2609781000005119	dystrofi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)