| Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
| 1208681014 |
Developmental abnormality |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
| 183282017 |
Developmental anomaly |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
| 188572017 |
Developmental malformation, NOS |
en |
Synonym (core metadata concept) |
Inactive |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
| 188573010 |
Developmental anomaly, NOS |
en |
Synonym (core metadata concept) |
Inactive |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
| 188574016 |
Developmental defect, NOS |
en |
Synonym (core metadata concept) |
Inactive |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
| 188575015 |
Congenital anomaly, NOS |
en |
Synonym (core metadata concept) |
Inactive |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
| 190332014 |
Anomalous formation, NOS |
en |
Synonym (core metadata concept) |
Inactive |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
| 190333016 |
Abnormal development, NOS |
en |
Synonym (core metadata concept) |
Inactive |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
| 190334010 |
Congenital abnormality, NOS |
en |
Synonym (core metadata concept) |
Inactive |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
| 190335011 |
Malformation, NOS |
en |
Synonym (core metadata concept) |
Inactive |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
| 190336012 |
Developmental malformation |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
| 190337015 |
Developmental defect |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
| 190338013 |
Dysgenesis |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
| 190339017 |
Anomalous formation |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
| 190340015 |
Abnormal development |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
| 190341016 |
Malformation |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
| 190342011 |
Congenital malformation, NOS |
en |
Synonym (core metadata concept) |
Inactive |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
| 190343018 |
Congenital defect, NOS |
en |
Synonym (core metadata concept) |
Inactive |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
| 190344012 |
Congenital deformity, NOS |
en |
Synonym (core metadata concept) |
Inactive |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
| 190345013 |
Dysgenesis, NOS |
en |
Synonym (core metadata concept) |
Inactive |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
| 64781000077117 |
anomalie du développement |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Common French translation module (core metadata concept) |
| 686791000077119 |
anomalie du développement (anomalie morphologique) |
fr |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Common French translation module (core metadata concept) |
| 750678013 |
Developmental anomaly (morphologic abnormality) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Usher syndrome type 1 |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Usher syndrome type 2 |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Floating-Harbour syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| syndrome de Kabuki |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Solitary median maxillary central incisor syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Townes syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital absence of broad ligament |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Coalition of calcaneus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Longitudinal deficiency of phalanges of foot |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Uterus parvicollis |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| anomalie de l'aqueduc du cerveau |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Syndactyly of fingers with fusion of bones |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| atrésie congénitale de l'œsophage (trouble) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Ectopic placenta |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Agyria |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Congenital absence of part of brain |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| anodontie |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Tarsal coalitions |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Short rib-polydactyly syndrome, non-Majewski type |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Bilateral congenital subluxation of hip |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| anomalie morphologique congénitale de la hanche |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| syndrome de Gilbert |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Dysmorphic sialidosis, congenital form |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Pyloric atresia |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Congenital deformity of ankle joint |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital anomaly of coronary artery |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Choriovitelline placenta |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Gastric atresia |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Weill-Marchesani syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Adherent placenta |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| ectromélie d'un membre supérieur |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Trapped placenta |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Camptodactyly |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Glycogen storage disease, type VI |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Notomelus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital atresia of ejaculatory duct |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Congenital atresia of ejaculatory duct |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Peg-shaped teeth |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| anomalie longitudinale d'un os du tarse |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| défaut de développement de la moelle épinière (trouble) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Congenital dilatation of oesophagus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Acquired supradiaphragmatic diverticulum of oesophagus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Kundrat's syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Atresia of foramen of Magendie |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Talipes calcaneovarus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital choledochal cyst |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Brachymetatarsia |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Thoracic spina bifida |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| syndrome de Ruvalcaba (trouble) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| holoprosencéphalie (trouble) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Congenital ischaemic atrophy of central nervous system structure |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Pericarditis secondary to Mulibrey nanism |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Ectodermal dysplasia-ocular malformation syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital cyst of vulva |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| dysgénésie corticale cérébrale |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Talipes calcaneovalgus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital dislocation of elbow |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Syndactyly of toes |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| craniorachischisis |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| spina bifida cervicale (trouble) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Microdontia |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Longitudinal deficiency of metacarpal bone |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Manus extensa |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| encéphalite syphilitique congénitale |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Hemimelia |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Talipes equinovarus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital duplication of digestive organs |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Radioulnar synostosis |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Talipes calcaneus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Concrescence of teeth |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Congenital bowing of femur |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Unilateral congenital dislocation of hip (situation) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Anomaly of placenta |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Congenital coxa valga |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Syndactyly of fingers |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital anomaly of hand (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital duplication of vagina |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Dimelia |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital absence of bronchus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Congenital hypoplasia of penis |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Congenital hypoplasia of penis |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Hypoplasia of cementum |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Anomalous communication of coronary artery |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Correction of congenital deformity of hand |
Direct morphology |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Correction of mirror hand |
Direct morphology |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Repositioning of thumb for cleft hand |
Direct morphology |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Realignment of congenital ulnar drift |
Direct morphology |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Placenta cirsoides |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| syndrome de Nager (trouble) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Acquired diverticulum of oesophagus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Open bite |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Diastema of teeth |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Abnormal communication between pericardial sac and pleura |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Combined deficiency of sialidase AND beta galactosidase |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Infantile uterus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| méningocèle cérébrale congénitale (trouble) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Congenital subluxation of hip |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|