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49755003: Morphologically abnormal structure (morphologic abnormality)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
495494014 Morphologically abnormal structure en Synonym Active Case insensitive SNOMED CT core
787468010 Morphologically abnormal structure (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core
82877014 Abnormal tissue appearance en Synonym Active Case insensitive SNOMED CT core

4996 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Morphologically abnormal structure Is a Morphologically altered structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
SIX2-related frontonasal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 3 Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 3 Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Split-foot malformation, mesoaxial polydactyly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Thickened dental follicle Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Fried syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Incontinentia pigmenti syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Incontinentia pigmenti syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Incontinentia pigmenti syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Propylthiouracil embryofetopathy Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Acquired subpulmonary stenosis associated with functionally univentricular heart Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Subpulmonary stenosis associated with functionally univentricular heart as complication of procedure Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Acquired subpulmonary stenosis due to restrictive ventricular defect associated with functionally univentricular heart Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Subaortic stenosis associated with functionally univentricular heart as complication of procedure Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Acquired subaortic stenosis associated with functionally univentricular heart Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Acquired subaortic stenosis due to restrictive ventricular septal defect associated with functionally univentricular heart Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Cardiospondylocarpofacial syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Kosaki overgrowth syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
X-linked intellectual disability with marfanoid habitus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Christianson syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Focal cortical resection Direct morphology True Morphologically abnormal structure Inferred relationship Some 736833316
Congenital generalised hypercontractile muscle stiffness syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Mulberry molar teeth Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Oral-facial-digital syndrome with short stature and brachymesophalangia Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Oral-facial-digital syndrome with short stature and brachymesophalangia Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Oral-facial-digital syndrome with short stature and brachymesophalangia Associated morphology True Morphologically abnormal structure Inferred relationship Some 6
Kallman syndrome with heart disease Associated morphology True Morphologically abnormal structure Inferred relationship Some 6
Habit tic affecting skin Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Habit tic Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Habit tic affecting hair Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
GAPO syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 7
Erythrokeratodermia cardiomyopathy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Erythrokeratodermia cardiomyopathy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
DYRK1A-related intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Gabriele-de Vries syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Mucopolysaccharidosis-like plus disease Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Mucopolysaccharidosis-like plus disease Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Stromme syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Witteveen Kolk syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Sugarman brachydactyly Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Microcephalic cortical malformations, short stature due to RTTN deficiency Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Tubulinopathy-associated dysgyria Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Basel Vanagaite Smirin Yosef syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Osteogenesis imperfecta, type IV B Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Hallermann Streiff like syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Sanjad Sakati syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Laparoscopic-assisted anorectal pull-through Direct morphology True Morphologically abnormal structure Inferred relationship Some 1341077227
Posterior meningocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Microform holoprosencephaly Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Delayed primary closure of congenital abdominal wall defect Direct morphology True Morphologically abnormal structure Inferred relationship Some 774964251
Cranial vault remodelling for scaphocephaly Direct morphology True Morphologically abnormal structure Inferred relationship Some 778263992
Autosomal recessive dysgenesis of anterior segment of eye Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Familial cavitary optic disc anomaly Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Correction of congenital megaprepuce Direct morphology True Morphologically abnormal structure Inferred relationship Some 1484204607
Primary closure of congenital abdominal wall defect Direct morphology True Morphologically abnormal structure Inferred relationship Some 2095269176
Anterior sagittal anorectoplasty Direct morphology True Morphologically abnormal structure Inferred relationship Some 1405534219
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Steel syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Intellectual disability, expressive aphasia, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Repair of defect of abdominal wall Direct morphology True Morphologically abnormal structure Inferred relationship Some 1900789071
Dieulafoy lesion of small intestine Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Dieulafoy lesion of small intestine Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital fibre-type disproportion myopathy due to ZAK mutation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital fibre-type disproportion myopathy due to SELENON mutation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Autosomal recessive congenital fibre-type disproportion myopathy due to SELENON mutation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
MIRAGE syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 469367688
Dysraphism, cleft lip and palate, limb reduction defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Severe oculo-renal-cerebellar syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Eye defects, arachnodactyly, cardiopathy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Eye defects, arachnodactyly, cardiopathy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Fryns Smeets Thiry syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital hydrocephalus, low insertion of umbilicus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital hydrocephalus, low insertion of umbilicus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3

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