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 |
Cheilognathoschisis |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
6 |
Congenital chorioretinal degeneration |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Cardiac septal defects |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
Ectrodactyly-ectodermal dysplasia-clefting syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
5 |
Congenital atresia |
Is a |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
|
Fetal hydantoin syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital anomalies of elbow and upper arm |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
Fetal trimethadione syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital anomalies of eyelid, lacrimal system and orbit |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital anomalies of eyelid, lacrimal system and orbit |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
Ambiguous genitalia |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
Cyst of Wolffian duct |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
Abnormal plantar creases |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital eventration of left crus of diaphragm |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
5 |
Preauricular sinus and fistula |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
7 |
Preauricular sinus and fistula |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
8 |
Female pseudohermaphroditism |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
Accessory sternebral ossification site |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
Patent ductus venosus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Streak gonad |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Reifenstein syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
Hydatid cyst of Morgagni - female |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Male pseudohermaphroditism |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
Cyst of hydatid of Morgagni |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital malformation of uterus and cervix |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Abnormal course of aortic arch and descending aorta |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
Vitellointestinal band |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital anomaly of digestive system |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Mesonephric cyst |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Wolffian duct cyst - male |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
Ovotestis |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Abnormal palmar creases |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
Cervical, vaginal and external female genital anomalies |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital malformation of genital organs |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Closed ductus venosus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Genitourinary congenital anomalies |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Cyst of embryonic remnant - male |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital eventration of right crus of diaphragm |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
5 |
Persistent urogenital sinus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
Ductus venosus abnormality |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
False hermaphrodite |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Indeterminate sex and pseudohermaphroditism |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Auriculo-condylar syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Vascular loops of inner ear |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
Vascular malformation of inner ear |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
Pseudohermaphroditism |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
Duhamel operation, abdominoperineal pull-through |
Direct morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
Fetal cocaine syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Oromandibular-limb hypogenesis spectrum |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
Cystic hygroma |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Schwartz-Jampel syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Simple lymphangioma |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Cephalodiprosopus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Monocephalus tripus dibrachius |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital malformation of the eyebrow |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Capillary-venous-lymphatic malformation |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
5 |
Capillary-venous-lymphatic malformation |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
6 |
Endemic congenital iodine deficiency syndrome of myxedematous type |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Stickler syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
6 |
Supernumerary structure |
Is a |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
|
Radial aplasia-thrombocytopenia syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Pentalogy of Cantrell |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Male subcoronal hypospadias |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Meckel-Gruber syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Aarskog syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Smith-Lemli-Opitz syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Russell-Silver syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Multiple malformation syndrome, moderate short stature, facial |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Cephalothoracopagus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Primary ciliary dyskinesia due to transposition of ciliary microtubules |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Treacher Collins syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Lobar holoprosencephaly |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Fetal alcohol syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Myhre syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Deradelphus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Facial milia, lobate tongue, lingual and labial frenula syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Malformation sequence |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Rehbein procedure |
Direct morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Allemann's syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Arteriovenous-lymphatic malformation |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
5 |
Mohr syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
Mohr syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
Miller syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
Dicephalus tripus tribrachius |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Katadidymus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Penoscrotal hypospadias |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
Marinesco-Sjögren syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Weaver syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Fetal anencephaly |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Acrocephalosyndactyly |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Desmiognathus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Fetal minoxidil syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Pena-Shokeir phenotype |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Kundrat's syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Lymphangiectasia with chylous reflux |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
Single monster, specified type |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Sirenomelia sequence |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
Persistent omphalomesenteric artery |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
Child syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |