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4720007: Dystrophy (morphologic abnormality)

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
8873011 Dystrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dystrophy Is a Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Adrenomyeloneuropathy (disorder) Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Laminin alpha-2 related limb girdle muscular dystrophy R23 (disorder) Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
POMGNT2-related limb girdle muscular dystrophy R24 Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Calpain-3-related limb girdle muscular dystrophy D4 Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare mitochondrial disease characterized by early infantile onset of progressive neurological deterioration with seizures, spasticity, and lack of psychomotor development. Brain imaging shows severe leukodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. The disease is usually fatal in early childhood. Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Nail dystrophy caused by chemical (disorder) Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Essential iris atrophy of bilateral eyes (disorder) Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 3
Essential iris atrophy of bilateral eyes (disorder) Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 4
Essential iris atrophy of right eye (disorder) Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Essential iris atrophy of left eye (disorder) Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Sorsby pseudoinflammatory fundus dystrophy of left eye (disorder) Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Sorsby pseudoinflammatory fundus dystrophy of right eye (disorder) Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral Sorsby pseudoinflammatory fundus dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral Sorsby pseudoinflammatory fundus dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Fundus flavimaculatus of right eye (disorder) Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Fundus flavimaculatus of left eye (disorder) Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Cholestanol storage disease Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypomyelination of early myelinating structures Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Alexander disease type II Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Total peripapillary choroidal dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial peripapillary choroidal dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Intermediate collagen VI-related muscular dystrophy Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Trachyonychia (disorder) Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare, isolated nail anomaly characterised by brittle, thin, rough, opaque appearing nails with excessive longitudinal ridging. In a less severe form, the nails retain their luster and present with superficial ridging and multiple small geometric pits. In both varieties, superficial scaling of the nail plate and hyperkeratosis of the cuticles, as well as koilonychia and onychoschizia are observed. Any number of nails may be affected, and fingernails are more often affected than toenails. Spontaneous improvement of the condition may occur. Associated morphology True Dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 1

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