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49755003: Morphologically abnormal structure (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
82877014 Abnormal tissue appearance en Synonym Active Entire term case insensitive SNOMED CT core module
495494014 Morphologically abnormal structure en Synonym Active Entire term case insensitive SNOMED CT core module
787468010 Morphologically abnormal structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module

5006 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Morphologically abnormal structure Is a Body structure, altered from its original anatomical structure true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Brittle cornea syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Multiple epiphyseal dysplasia Beighton type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Haddad syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Acro-dermato-ungual-lacrimal-tooth syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Ehlers-Danlos syndrome cardiac valvular type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Ehlers-Danlos syndrome musculocontractural type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 6
Ehlers-Danlos syndrome progeroid type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Deafness, enamel hypoplasia, nail defect syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 6
Dermatoosteolysis Kirghizian type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Dermatoosteolysis Kirghizian type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Dermo-odonto dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Dermo-odonto dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Ectodermal dysplasia with blindness syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Hirschsprung disease with type D brachydactyly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Johnson neuroectodermal syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Hirschsprung disease of rectosigmoid region Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Extensive aganglionosis Hirschsprung disease Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Oculoosteocutaneous syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Oculotrichodysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Oculotrichodysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Book syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Book syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Congenital hypoganglionosis of large intestine Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Stern Lubinsky Durrie syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Stern Lubinsky Durrie syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Ehlers-Danlos syndrome classic type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Waardenburg Shah syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Ehlers-Danlos syndrome kyphoscoliotic type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Ehlers-Danlos and osteogenesis imperfecta syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Ectodermal dysplasia trichoodontoonychial type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Derangement of posterior horn of lateral meniscus Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Ehlers-Danlos syndrome due to tenascin-X deficiency Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Teebi Shaltout syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Chondroectodermal dysplasia with night blindness syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 7
Chondroectodermal dysplasia with night blindness syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Chondroectodermal dysplasia with night blindness syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 6
Conductive deafness, ptosis, skeletal anomalies syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Conductive deafness, ptosis, skeletal anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 6
Curly hair, acral keratoderma, caries syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Curly hair, acral keratoderma, caries syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Curly hair, acral keratoderma, caries syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
RAB18, member RAS oncogene family deficiency Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
RAB18, member RAS oncogene family deficiency Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Ehlers-Danlos syndrome spondylocheirodysplastic type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Derangement of meniscus of knee joint due to and following old injury of knee Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Derangement of ankle Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Derangement of sacroiliac joint Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Derangement of temporomandibular joint Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Lowe syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Lowe syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Wildervanck syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Wildervanck syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Ehlers-Danlos syndrome, dominant type 4 Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Ehlers-Danlos syndrome, type 1 Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Ehlers-Danlos syndrome, dysfibronectinemic Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Fetus papyraceous Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Hallermann-Streiff syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Derangement of anterior horn of medial meniscus Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Derangement of anterior horn of lateral meniscus Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Arthrogryposis and ectodermal dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 7
Arthrogryposis and ectodermal dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 8
Congenital abnormality of atrium Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Radiculopathy due to intervertebral disc disorder Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Focal facial dermal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Focal facial dermal dysplasia type I Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Focal facial dermal dysplasia type II Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Focal facial dermal dysplasia type III Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Focal facial dermal dysplasia type IV Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Congenital anomaly of anterior portion of neck Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Multiple anomalies of fetus Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Fetal anomaly caused by antihypertensive drug Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Craniotabes Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Aganglionosis of large intestine Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Immature ganglionosis of large intestine Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Pulmonary tuberous sclerosis Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Trichorhinophalangeal syndrome type 1 and 3 Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Trichorhinophalangeal syndrome type 1 and 3 Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Recurrent atlantoaxial subluxation with myelopathy Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Melnick-Fraser syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Melnick-Fraser syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Pulmonic stenosis and congenital nephrosis Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Sphenobasilar synchondrosis vertical strain Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Craniofacial deafness hand syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Craniofacial deafness hand syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Yttrium aluminum garnet laser vitreolysis Direct morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Barber-Say syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Microcephalus with albinism and digital anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 6
46,XY disorder of sex development due to maternal ingestion of progestogen Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1

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