| 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 |
| Congenital absence of metatarsal bone |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital absence of tail |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Congenital absence of talus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital absence of tarsal bone |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital absence of paw |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Hereditary skin peeling syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
12 |
| Congenital myopathy with myasthenic-like onset (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Craniofaciofrontodigital syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Congenital patent ductus arteriosus aneurysm |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Cerebrofacioarticular syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Facial dysmorphism, cleft palate, loose skin syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Congenital muscular dystrophy with hyperlaxity (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Bilateral acheiria |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Bilateral congenital absence of feet |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Bilateral crossbite |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Buccal crossbite |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Congenital bowing of tibia and/or fibula (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Ichthyosis prematurity syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| forme létale du syndrome des ptérygiums multiples (trouble) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| X-linked lethal multiple pterygium syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| forme létale du syndrome des ptérygiums multiples (trouble) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Velofacioskeletal syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Primary laryngeal lymphangioma |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| syndrome de mèches blanches et anomalies multiples |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Trichodermodysplasia and dental alterations syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| 46,XY ovotesticular disorder of sex development |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Familial multiple nevi flammei (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Familial vesicoureteral reflux (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Finnish upper limb onset distal myopathy |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Caudal hemivertebra |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Cervical hemivertebra |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Congenital abnormal fusion of calcaneus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal fusion of carpal bone |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal fusion of femur |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal fusion of fibula |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal fusion of forepaw phalanx |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal fusion of hindpaw phalanx |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal fusion of humerus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal fusion of liver lobes |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Congenital abnormal fusion of metacarpal bone |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal fusion of metatarsal bone |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal fusion of radius |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal fusion of talus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal fusion of tarsal bone |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal fusion of tibia |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal fusion of ulna |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal long growth of bile duct |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Congenital abnormal shape of calcaneus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal shape of carpal bone |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal shape of cerebellum |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Congenital abnormal shape of cerebrum |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Congenital abnormal shape of clavicle |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal shape of digit |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal shape of femur |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal shape of fibula |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal shape of forepaw phalanx |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Wiedemann Steiner syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Congenital abnormal shape of gallbladder |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Congenital abnormal shape of hindpaw phalanx |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Congenital abnormal shape of humerus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal shape of liver |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Congenital abnormal shape of metacarpal bone |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal shape of metatarsal bone |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal shape of ovary |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Congenital abnormal shape of fallopian tube (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Congenital abnormal shape of radius |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal shape of talus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal shape of tarsal bone |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal shape of testis |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Congenital abnormal shape of testis |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Congenital abnormal shape of tibia |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal shape of ulna |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital abnormal shape of uterus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Agenesis of clavicle |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital absence of genital tubercle |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Congenital absence of gonads |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Intellectual disability, alacrima, achalasia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Intellectual disability, polydactyly, uncombable hair syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Intellectual disability Wolff type |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Dislocation of hip and facial dysmorphism syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Autosomal recessive exfoliative ichthyosis (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| KLHL9-related early-onset distal myopathy |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Congenital absence of fallopian tube |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Congenital ankylodactyly |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital bent clavicle |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital bent humerus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital bent radius |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital bent tail |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Congenital bent ulna |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital anomaly of animal tail |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Congenital anomaly of claw |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital anomaly of oviduct |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Congenital anomaly of paw |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital anomaly of pericardium |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Congenital atresia of uterus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Congenital bilobed gallbladder |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |