| Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
| 183282017 |
Developmental anomaly |
en |
Synonym |
Active |
Entire term case insensitive |
SNOMED CT core module |
| 188572017 |
Developmental malformation, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 188573010 |
Developmental anomaly, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 188574016 |
Developmental defect, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 188575015 |
Congenital anomaly, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 190332014 |
Anomalous formation, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 190333016 |
Abnormal development, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 190334010 |
Congenital abnormality, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 190335011 |
Malformation, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 190336012 |
Developmental malformation |
en |
Synonym |
Active |
Entire term case insensitive |
SNOMED CT core module |
| 190337015 |
Developmental defect |
en |
Synonym |
Active |
Entire term case insensitive |
SNOMED CT core module |
| 190338013 |
Dysgenesis |
en |
Synonym |
Active |
Entire term case insensitive |
SNOMED CT core module |
| 190339017 |
Anomalous formation |
en |
Synonym |
Active |
Entire term case insensitive |
SNOMED CT core module |
| 190340015 |
Abnormal development |
en |
Synonym |
Active |
Entire term case insensitive |
SNOMED CT core module |
| 190341016 |
Malformation |
en |
Synonym |
Active |
Entire term case insensitive |
SNOMED CT core module |
| 190342011 |
Congenital malformation, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 190343018 |
Congenital defect, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 190344012 |
Congenital deformity, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 190345013 |
Dysgenesis, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 750678013 |
Developmental anomaly (morphologic abnormality) |
en |
Fully specified name |
Active |
Entire term case insensitive |
SNOMED CT core module |
| 1208681014 |
Developmental abnormality |
en |
Synonym |
Active |
Entire term case insensitive |
SNOMED CT core module |
| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Child syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Coffin-Lowry syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
5 |
| Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Bloom syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Trichorhinophalangeal dysplasia type I |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Trichorhinophalangeal dysplasia type I |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, limb defects syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Larsen syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
| Single stage epispadias repair |
Direct morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Multiple malformation syndrome, small stature, without skeletal dysplasia |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Endemic cretinism |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Pygodidymus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital transposition of stomach |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Congenital malformation |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Nager syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Nager syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Multiple malformation syndrome due to non-infectious environmental agents |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Osteochondrodysplasia syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Second stage of two-stage epispadias repair |
Direct morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Anencephalus and similar anomalies |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Anadidymus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Persistent cerebral embryonic artery |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Reanastomosis of rectum to anal canal for correction of congenital atresia of rectum |
Direct morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
| Agnathus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Monster |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Single monster |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Ruvalcaba-Myhre syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Ruvalcaba-Myhre syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| First stage of two-stage epispadias repair |
Direct morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Ruvalcaba syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Ruvalcaba syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Congenital iodine deficiency syndrome of neurological type |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital abnormal fusion |
Is a |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
|
| Incomplete anencephaly |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Oral lymphangioma |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
| Congenital hypothyroidism without goiter |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Malformation defect spectrum |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Thalidomide embryopathy syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital vascular anomaly |
Is a |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
|
| Shprintzen syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Thoracodidymus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Trichorhinophalangeal dysplasia type III |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Trichorhinophalangeal dysplasia type III |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Mietens syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Mietens syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Otocephalic syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Macropalpebral fissure |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital pulmonary lymphangiectasis |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Gastrothoracopagus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Rothmund-Thomson syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Synotus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Fetal primidone syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital malformation of lymphatic vessel of skin |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Oto-palato-digital syndrome, type II |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
| Franceschetti-Klein syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital cavitation |
Is a |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
|
| Venous-lymphatic malformation |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
| Heterodymus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Vertebral anomalies/dysgenesis, anal atresia, tracheo-esophageal fistula, esophageal atresia, renal anomalies, radial dysplasia association |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Immotile cilia syndrome due to defective radial spokes |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Persistence of primitive artery |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Fetal carbamazepine syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Diffuse lymphangioma |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Facio-auriculo-vertebral spectrum |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Cephalodymus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital abnormal communication |
Is a |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
|
| Dicephalus dipus tetrabrachius |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Celosomus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Duhamel's syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Fetal valproate syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Abdominosacroperineal pull-through |
Direct morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Multiple malformation syndrome with facial-limb defects as major feature |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Multiple malformation syndrome with facial-limb defects as major feature |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Cutback of covered anus |
Direct morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Distichiasis-lymphedema syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Double monster |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Systemic lymphangiomatosis |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Monocephalus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Hay-Wells syndrome of ectodermal dysplasia |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Hay-Wells syndrome of ectodermal dysplasia |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
| Congenital malformation of uterus and cervix |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Fetus with central nervous system malformation - delivered |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Janiceps |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Hajdu-Cheney syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Fetal toluene syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Multiple system malformation syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Cleft palate lateral synechia syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Pallister-Hall syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Gastrothoracopagus dipygus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Dicephalic parapagus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Zellweger syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Sacroperineal pull-through |
Direct morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Fetus with central nervous system malformation |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Derencephalus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Triplet monster |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Monocephalus tetrapus dibrachius |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Trichorhinophalangeal syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Trichorhinophalangeal syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Congenital malformation of tongue, mouth and pharynx |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital malformation of tongue, mouth and pharynx |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |