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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
Fried syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
incontinentia pigmenti morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
incontinentia pigmenti morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
incontinentia pigmenti morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 2
Disorder of fetus caused by propylthiouracil (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Acquired subpulmonary stenosis associated with functionally univentricular heart morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Subpulmonary stenosis associated with functionally univentricular heart as complication of procedure (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Acquired subpulmonary stenosis due to restrictive ventricular defect associated with functionally univentricular heart morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Subaortic stenosis associated with functionally univentricular heart as complication of procedure morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Acquired subaortic stenosis associated with functionally univentricular heart (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Acquired subaortic stenosis due to restrictive ventricular septal defect associated with functionally univentricular heart morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Cardiospondylocarpofacial syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 5
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Kosaki overgrowth syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
X-linked intellectual disability with marfanoid habitus (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Christianson syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital generalized hypercontractile muscle stiffness syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Mulberry molar teeth morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Oral-facial-digital syndrome with short stature and brachymesophalangia morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Oral-facial-digital syndrome with short stature and brachymesophalangia morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
Oral-facial-digital syndrome with short stature and brachymesophalangia morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 6
Kallman syndrome with heart disease (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 6
Habit tic affecting skin (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Habit tic (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Habit tic affecting hair (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 7
Erythrokeratodermia cardiomyopathy syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Erythrokeratodermia cardiomyopathy syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Gabriele-de Vries syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Mucopolysaccharidosis-like plus disease morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Mucopolysaccharidosis-like plus disease morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Stromme syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Witteveen Kolk syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Sugarman brachydactyly (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Tubulinopathy-associated dysgyria (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Basel Vanagaite Smirin Yosef syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Osteogenesis imperfecta, type IV B morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Hallermann Streiff like syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Sanjad Sakati syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Posterior meningocele morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Microform holoprosencephaly morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Autosomal recessive dysgenesis of anterior segment of eye morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Familial cavitary optic disc anomaly (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 5
Dieulafoy lesion of small intestine morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Dieulafoy lesion of small intestine morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Congenital fiber-type disproportion myopathy due to ZAK mutation morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital fiber-type disproportion myopathy due to SELENON mutation morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Dysraphism, cleft lip and palate, limb reduction defect syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
Severe oculo-renal-cerebellar syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Eye defects, arachnodactyly, cardiopathy syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Eye defects, arachnodactyly, cardiopathy syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Fryns Smeets Thiry syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital hydrocephalus, low insertion of umbilicus syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Congenital hydrocephalus, low insertion of umbilicus syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Congenital fibre-type disproportion myopathy due to ACTA1 mutation morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital fiber-type disproportion myopathy due to TPM3 mutation morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Autosomal dominant congenital fiber-type disproportion myopathy due to TPM3 mutation morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
SATB2-associated syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital anomaly of craniovertebral junction (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Autosomal dominant deafness with onychodystrophy syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 5
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Polymicrogyria due to TUBB2B mutation morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
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

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