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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
Penoscrotal hypospadias Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Perineal hypospadias Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Scrotal hypospadias Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Male subcoronal hypospadias Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Glanular hypospadias Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Spina bifida and hypospadias syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Pancreatic agenesis, holoprosencephaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Primary desmosis coli Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
1p35.2 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
9q33.3q34.11 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Xq25 microduplication syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
17q24.2 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
9q21.13 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Lethal brain and heart developmental defects syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Lethal brain and heart developmental defects syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
11q22.2q22.3 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
20q11.2 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
20q11.2 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
8q24.3 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
8q24.3 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
SIM bHLH transcription factor 1-related Prader-Willi-like syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
MAGE family member L2-related Prader-Willi-like syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Duane retraction syndrome with congenital deafness Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Duane retraction syndrome with congenital deafness Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Congenital peripapillary staphyloma Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Frontorhiny Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Placenta accreta without hemorrhage Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Placenta extrachorales Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Cornual placenta accreta Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Timothy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Atypical Timothy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Situs inversus of optic disc Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Exstrophy epispadias complex Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Congenital anomaly of bilateral upper limbs Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital anomaly of bilateral upper limbs Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Congenital anomaly of right upper limb Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital anomaly of left upper limb Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
46,XY disorder of sex development due to isolated 17,20-lyase deficiency Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital anomaly of left lower limb Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital anomaly of right lower limb Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Deafness, enamel hypoplasia, nail defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital azygos continuation of inferior vena cava Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital cochleovestibular malformation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital vascular malformation of orbital region Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Phosphodiesterase 4D haploinsufficiency syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Phosphodiesterase 4D haploinsufficiency syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
FG syndrome type 1 Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
FG syndrome type 1 Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Dermatosparaxis Ehlers-Danlos syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Embryopathy caused by isotretinoin Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Night blindness, skeletal anomalies, dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Night blindness, skeletal anomalies, dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Retracted structure Is a True Morphologically abnormal structure Inferred relationship Existential restriction modifier
Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Symptomatic form of fragile X syndrome in female carrier Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
46,XX ovarian dysgenesis, short stature syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Placenta accreta Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Placenta percreta Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Cornual placenta accreta Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Aprosencephaly/atelencephaly spectrum Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Aprosencephaly Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
XK aprosencephaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Aprosencephaly cerebellar dysgenesis Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Aprosencephaly cerebellar dysgenesis Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Aprosencephaly cerebellar dysgenesis Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Morbidly adherent placenta Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Placenta increta Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Cornual placenta accreta Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Adherent placenta Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Cerebellar-facial-dental syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Cerebellar-facial-dental syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Short stature, developmental delay, congenital heart defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Symptomatic form of Coffin-Lowry syndrome in female carrier Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Fatty acyl-coenzyme A reductase 1 deficiency Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 5

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