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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
3371000077116 structure anormale sur le plan morphologique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
495494014 Morphologically abnormal structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
621521000077113 structure anormale sur le plan morphologique (anomalie morphologique) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
787468010 Morphologically abnormal structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
82877014 Abnormal tissue appearance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4977 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
structure anormale sur le plan morphologique est un(e) (attribut) structure modifiée sur le plan morphologique true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Lack of ossification of mandible morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Lack of ossification of premaxilla morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Multiple lentigines syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Lack of ossification of pubis morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Cervical spinal hydromeningocele morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 2
Craniosynostosis and dental anomalies syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Roifman syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Thoracic spina bifida without hydrocephalus - open morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Lack of ossification of supraoccipital bone morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
Thoracic spina bifida with hydrocephalus - open morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Discontinuity between mitral valve and pulmonary valve (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Quadricuspid pulmonary valve morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Congenital abnormality of arterial valves morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Lack of ossification of tympanic anulus morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
Right-left orientation of bicuspid pulmonary valve (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital fusion of pulmonary valve segment morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 2
Anterior-posterior orientation of bicuspid pulmonary valve (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Bicuspid pulmonary valve morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Unicuspid aortic valve morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Commissural fusion of pulmonary valve morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 2
Sacral agenesis morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 3
9q31.1q31.3 microdeletion syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Lack of ossification of basisphenoid bone morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
Acommissural unicuspid aortic valve (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Lack of ossification of lacrimal bone morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
Congenital abnormality of cardiac ventricle morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Commissural fusion of aortic valve morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 2
Accessory tissue on pulmonary valve cusp morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Lack of ossification of premaxilla morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
Quadricuspid aortic valve morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Unicommissural unicuspid aortic valve (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Lack of ossification of presphenoid bone morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
Rhinocephaly morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 3
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
13q12.3 microdeletion syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
14q24.1q24.3 microdeletion syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
triade de Hutchinson morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Tapered teeth (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 2
Developmental anomaly of root of tooth (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Robinow syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Developmental abnormality of tooth size and form morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Intramedullary glomus arteriovenous malformation of spinal cord (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Intramedullary and extramedullary arteriovenous malformation of spinal cord (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Otomandibular dysostosis morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Developmental abnormality of cusp of tooth (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Developmental anomaly of crown and root formation morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Temporo-auro-mandibular dysostosis morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Developmental anomaly of tooth (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Chudley McCullough syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital malformation of bilateral external ears (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Congenital malformation of bilateral external ears (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Craniofacial dysplasia osteopenia syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Craniofacial dysplasia osteopenia syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Genitopalatocardiac syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Genitopalatocardiac syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Flat face, microstomia, ear anomaly syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Flat face, microstomia, ear anomaly syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Pitt Hopkins-like syndrome (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Emery Nelson syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Emery Nelson syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Ataxia, photosensitivity, short stature syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital malformation of bilateral ears (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Congenital malformation of bilateral ears (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Single left ventricle morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Osteogenesis imperfecta with blue sclerae AND normal teeth morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Single right ventricle morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
NPHP3-related Meckel-like syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Myelocele with hydrocephalus morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
FLOTCH syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
SCALP syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Dandy-Walker syndrome with spina bifida morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
abcès épidural intracrânien morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 3
Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital overriding toes of bilateral feet (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 5
Congenital overriding toes of right foot (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 3

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