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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
198205018 Lesion en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
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
82870011 Morphologic abnormality en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
82871010 Morphologic abnormality, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
82872015 Morphologic alteration, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
82873013 Morphologic change, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
82874019 Abnormal tissue appearance, NOS en Synonym (core metadata concept) Inactive Only initial character 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
82878016 Abnormal appearance, NOS en Synonym (core metadata concept) Inactive Only initial character 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
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 6
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Male pseudohermaphroditism due to congenital adrenal hyperplasia (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Female pseudohermaphroditism due to congenital adrenal hyperplasia morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Pseudohermaphroditism due to congenital adrenal hyperplasia (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Severe myopia, generalized joint laxity, short stature syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 5
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Ocular motor apraxia Cogan type (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Milk-induced pulmonary disease in infant morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
QRICH1-related intellectual disability, chondrodysplasia syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Fetal encasement syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Keppen Lubinsky syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Pierpont syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Congenital anomaly of retina of left eye (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital anomaly of right retina morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital abnormality of left lacrimal drainage system (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital abnormality of right lacrimal drainage system (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital abnormality of bilateral lacrimal drainage systems (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital abnormality of bilateral lacrimal drainage systems (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Coronal hypospadias morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Paraspadias morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Penoscrotal hypospadias (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Perineal hypospadias (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Scrotal hypospadias morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Male subcoronal hypospadias morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Glanular hypospadias morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Spina bifida and hypospadias syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 5
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Pancreatic agenesis, holoprosencephaly syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Primary desmosis coli (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 5
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
1p35.2 microdeletion syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
9q33.3q34.11 microdeletion syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Xq25 microduplication syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
17q24.2 microdeletion syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
9q21.13 microdeletion syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Lethal brain and heart developmental defects syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Lethal brain and heart developmental defects syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
11q22.2q22.3 microdeletion syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
20q11.2 microdeletion syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
20q11.2 microdeletion syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
8q24.3 microdeletion syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
8q24.3 microdeletion syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
SIM1-related Prader-Willi-like syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
MAGE family member L2-related Prader-Willi-like syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Duane retraction syndrome with congenital deafness morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Duane retraction syndrome with congenital deafness morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Congenital peripapillary staphyloma morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Frontorhiny (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Placenta accreta without haemorrhage morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Placenta extrachorales morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Cornual placenta accreta morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Timothy syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Atypical Timothy syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Situs inversus of optic disc morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Exstrophy epispadias complex morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
Bilateral congenital anomaly of upper limbs morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Bilateral congenital anomaly of upper limbs morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Congenital anomaly of right upper limb (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital anomaly of left upper limb (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital anomaly of left lower limb morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital anomaly of right lower limb (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Deafness, enamel hypoplasia, nail defect syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital azygos continuation of inferior vena cava (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital cochleovestibular malformation morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital vascular malformation of orbital region (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Cutaneous patch est un(e) (attribut) False structure anormale sur le plan morphologique Inferred relationship Some
Cutaneous plaque est un(e) (attribut) False structure anormale sur le plan morphologique Inferred relationship Some
Heterotopia est un(e) (attribut) False structure anormale sur le plan morphologique Inferred relationship Some

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