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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
Bilateral congenital anomaly of upper limbs Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bilateral congenital anomaly of upper limbs Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of right upper limb Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of left upper limb Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
46,XY disorder of sex development due to isolated 17,20-lyase deficiency Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of left lower limb Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of right lower limb Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Deafness, enamel hypoplasia, nail defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
MIRAGE syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital azygos continuation of inferior vena cava Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital cochleovestibular malformation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital vascular malformation of orbital region Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
PDE4D haploinsufficiency syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
PDE4D haploinsufficiency syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
FG syndrome type 1 Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
FG syndrome type 1 Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Dermatosparaxis Ehlers-Danlos syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Isotretinoin syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Night blindness, skeletal anomalies, dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Night blindness, skeletal anomalies, dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Retracted structure Is a True Morphologically abnormal structure Inferred relationship Some
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Symptomatic form of fragile X syndrome in female carrier Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
46,XX ovarian dysgenesis, short stature syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Placenta accreta Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Placenta percreta Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Cornual placenta accreta Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Aprosencephaly/atelencephaly spectrum Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Aprosencephaly Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
XK aprosencephaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Aprosencephaly cerebellar dysgenesis Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Aprosencephaly cerebellar dysgenesis Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Aprosencephaly cerebellar dysgenesis Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Morbidly adherent placenta Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Placenta increta Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Cornual placenta accreta Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Adherent placenta Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
PYCR2-related microcephaly, progressive leucoencephalopathy Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Cerebellar-facial-dental syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cerebellar-facial-dental syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
PLACK syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Short stature, developmental delay, congenital heart defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Symptomatic form of Coffin-Lowry syndrome in female carrier Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Fatty acyl-CoA reductase 1 deficiency Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
16p12.1p12.3 triplication syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
16p12.1p12.3 triplication syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
4q25 proximal deletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
4q25 proximal deletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Lamb Shaffer syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
12p12.1 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Developmental and speech delay due to SOX5 (SRY-box 5) deficiency Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Spondylodysplastic Ehlers-Danlos syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Persistent cloaca Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital prepapillary vascular loop Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Twin monochorionic monoamniotic placenta Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Myopathic Ehlers-Danlos syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Myopathic Ehlers-Danlos syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Classical-like Ehlers-Danlos syndrome type 2 Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Oculocerebrodental syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Oculocerebrodental syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Congenital myopathy with reduced type 2 muscle fibres Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
X-linked myotubular myopathy, abnormal genitalia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
X-linked myotubular myopathy, abnormal genitalia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
X-linked intellectual disability, short stature, overweight syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital isolated onychodysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Laparoscopic anorectoplasty Direct morphology True Morphologically abnormal structure Inferred relationship Some 1
Laparoscopic anorectoplasty Direct morphology True Morphologically abnormal structure Inferred relationship Some 2
Ebstein's anomaly of common atrioventricular valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Common atrioventricular valve prolapse Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Fenestration of atrioventricular valve leaflet in atrioventricular septal defect Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Mass associated with atrioventricular valve leaflet in atrioventricular septal defect Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Baraitser Winter cerebrofrontofacial syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Antenatal multi-minicore disease with arthrogryposis multiplex congenita Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital multi-minicore disease with external ophthalmoplegia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Menke Hennekam syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital vertebral, cardiac, renal anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital vertebral, cardiac, renal anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital vertebral, cardiac, renal anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
EVEN-plus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
EVEN-plus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Cutaneous patch Is a False Morphologically abnormal structure Inferred relationship Some
Cutaneous plaque Is a False Morphologically abnormal structure Inferred relationship Some

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Reference Sets

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