| 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 narrowed tail |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Oro-facial digital syndrome type 13 |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Congenital short tail |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Renal hepatic pancreatic dysplasia (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Congenital thickening of clavicle |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Congenital thickening of femur |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital thickening of fibula |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital thickening of forepaw phalanx |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital thickening of hindpaw phalanx |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital thickening of humerus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital thickening of radius |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital thickening of talus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital thickening of tarsal bone |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital thickening of tibia |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital thickening of ulna |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Generalized macrodontia |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Oculopharyngodistal myopathy (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Holorachischisis |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| dysplasie olfactogénitale |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Incomplete ossification of calcaneus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Incomplete ossification of carpal bone |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Incomplete ossification of clavicle |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Incomplete ossification of femur |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Incomplete ossification of fibula |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Incomplete ossification of forepaw phalanx |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Incomplete ossification of hindpaw phalanx |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Incomplete ossification of humerus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Incomplete ossification of metacarpal bone |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Incomplete ossification of metatarsal bone |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Incomplete ossification of radius |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Incomplete ossification of talus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Incomplete ossification of tarsal bone |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Incomplete ossification of tibia |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Incomplete ossification of ulna |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Lack of ossification of calcaneus |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Lack of ossification of carpal bone |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Lack of ossification of clavicle |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Lack of ossification of femur |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Familial isolated trichomegaly |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Cylindrical spirals myopathy (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Verloove Vanhorick Brubakk syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Branchiootic syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| myopathie distale précoce type Laing |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Intellectual disability Birk-Barel type |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Congenital muscular dystrophy type 1B |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Congenital myopathy with internal nuclei and atypical cores (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Cryptorchidism, arachnodactyly, intellectual disability syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| King Denborough syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Otofaciocervical syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Otofaciocervical syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Oro-facial digital syndrome type 9 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Oro-facial digital syndrome type 11 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Branchiootic syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Facial dysmorphism, cleft palate, loose skin syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Short stature, wormian bones, dextrocardia syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Spina bifida and hypospadias syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Spina bifida and hypospadias syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Oro-facial digital syndrome type 14 |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Oro-facial digital syndrome type 14 |
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 |
2 |
| Oro-facial digital syndrome type 8 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Velofacioskeletal syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Wooly hair with palmoplantar keratoderma syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| syndrome de déficience intellectuelle-obésité-malformations cérébrales-dysmorphie faciale |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| syndrome de déficience intellectuelle-obésité-malformations cérébrales-dysmorphie faciale |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Oro-facial digital syndrome type 10 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Verloove Vanhorick Brubakk syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Verloove Vanhorick Brubakk syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Wiedemann Steiner syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Leukonychia totalis (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| syndrome de mèches blanches et anomalies multiples |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| syndrome de mèches blanches et anomalies multiples |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| syndrome de mèches blanches et anomalies multiples |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| syndrome de mèches blanches et anomalies multiples |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Joubert syndrome with orofaciodigital defect (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Prelingual non-syndromic genetic deafness (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| syndrome oculo-auriculaire type Schorderet |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Oro-facial digital syndrome type 1 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Oro-facial digital syndrome type 1 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Oro-facial digital syndrome type 1 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| syndrome oro-facio-digital type 5 |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| King Denborough syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Postlingual non-syndromic genetic deafness |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Trichodermodysplasia and dental alterations syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Trichodermodysplasia and dental alterations syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Cerebrofacioarticular syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |