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49755003: Morphologically abnormal structure (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
82877014 Abnormal tissue appearance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
495494014 Morphologically abnormal structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
787468010 Morphologically abnormal structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5206 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Morphologically abnormal structure (morphologic abnormality) Is a Morphologically altered structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Penoscrotal hypospadias (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Perineal hypospadias (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Scrotal hypospadias Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Male subcoronal hypospadias Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Glanular hypospadias Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Spina bifida and hypospadias syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 5
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Pancreatic agenesis, holoprosencephaly syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Primary desmosis coli (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 5
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
1p35.2 microdeletion syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
9q33.3q34.11 microdeletion syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Xq25 microduplication syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
17q24.2 microdeletion syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
9q21.13 microdeletion syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Lethal brain and heart developmental defects syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Lethal brain and heart developmental defects syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
11q22.2q22.3 microdeletion syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
20q11.2 microdeletion syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
20q11.2 microdeletion syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
8q24.3 microdeletion syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
8q24.3 microdeletion syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
SIM1-related Prader-Willi-like syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
MAGE family member L2-related Prader-Willi-like syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Duane retraction syndrome with congenital deafness Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Duane retraction syndrome with congenital deafness Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital peripapillary staphyloma Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Frontorhiny (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Placenta accreta without hemorrhage Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Placenta extrachorales Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Cornual placenta accreta Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Timothy syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Atypical Timothy syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Situs inversus of optic disc Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Exstrophy epispadias complex Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Bilateral congenital anomaly of upper limbs Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Bilateral congenital anomaly of upper limbs Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital anomaly of right upper limb (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of left upper limb (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of left lower limb Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of right lower limb (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital azygos continuation of inferior vena cava (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital cochleovestibular malformation Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital vascular malformation of orbital region (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
PDE4D haploinsufficiency syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
PDE4D haploinsufficiency syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
FG syndrome type 1 (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
FG syndrome type 1 (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Dermatosparaxis Ehlers-Danlos syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Embryopathy caused by isotretinoin (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Night blindness, skeletal anomalies, dysmorphism syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Night blindness, skeletal anomalies, dysmorphism syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Retracted structure (morphologic abnormality) Is a True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Symptomatic form of fragile X syndrome in female carrier (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
46,XX ovarian dysgenesis, short stature syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Placenta accreta Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Placenta percreta Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Cornual placenta accreta Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Aprosencephaly/atelencephaly spectrum Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Aprosencephaly Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
XK aprosencephaly syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Aprosencephaly cerebellar dysgenesis Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Aprosencephaly cerebellar dysgenesis Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Aprosencephaly cerebellar dysgenesis Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Morbidly adherent placenta (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Placenta increta Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Cornual placenta accreta Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Adherent placenta Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
PYCR2-related microcephaly, progressive leucoencephalopathy Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Cerebellar-facial-dental syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Cerebellar-facial-dental syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Short stature, developmental delay, congenital heart defect syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Symptomatic form of Coffin-Lowry syndrome in female carrier (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 5

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