| 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 |
| Puerto Rican infant hypotonia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Schilbach Rott syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Robinow-like syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Glossopalatine ankylosis (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Goldberg Shprintzen megacolon syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
9 |
| syndrome de malformations cérébrales-cardiopathie congénitale-polydactylie postaxiale |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Hypomandibular faciocranial dysostosis (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Robinow-like syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Ostium primum defect |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Atrial septal defect with endocardial cushion defect, partial type |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Persistent ostium secundum |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Lutembacher's syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
7 |
| Malaligned atrial septum |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Double outlet right atrium |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Double outlet left atrium |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Congenital atrial septal defect (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Restrictive interatrial communication with obligatory shunt (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Blepharonasofacial malformation syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Joubert syndrome with orofaciodigital defect (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Limb mammary syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Lung agenesis with heart defect and thumb anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Interatrial communication through coronary sinus orifice (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Thoracic insufficiency syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Klippel Trenaunay syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Joubert syndrome with orofaciodigital defect (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Microphthalmia with linear skin defect syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Joubert syndrome with orofaciodigital defect (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
9 |
| Lowry MacLean syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Blepharocheilodontic syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Isotretinoin embryopathy-like syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Isotretinoin embryopathy-like syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Kapur Toriello syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Kapur Toriello syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| MEHMO syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Lethal hemolytic anemia and genital anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Isotretinoin embryopathy-like syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
7 |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Hypertelorism with microtia and facial clefting syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
10 |
| Macrocephaly, short stature, paraplegia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
7 |
| Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Karsch Neugebauer syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| dysplasie olfactogénitale |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Isolated anterior cervical hypertrichosis (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Klippel Trenaunay syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Johnson neuroectodermal syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Kallman syndrome with heart disease (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Oculopalatocerebral syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Oculocerebrofacial syndrome Kaufman type (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Oculocerebrofacial syndrome Kaufman type (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Oculoosteocutaneous syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Odonto-tricho-ungual-digito-palmar syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Book syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Bamforth Lazarus syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Bamforth Lazarus syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Catel Manzke syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
7 |
| Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
7 |
| Acrofrontofacionasal dysostosis type 2 |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
8 |
| Oculotrichodysplasia (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Congenital myogenic ptosis |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Oculogastrointestinal muscular dystrophy (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Odonto-tricho-ungual-digito-palmar syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Matthew Wood syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Matthew Wood syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| DK phocomelia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
7 |
| Autosomal recessive popliteal pterygium syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Intellectual disability, developmental delay, contracture syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Ectodermal dysplasia with blindness syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Ectodermal dysplasia with blindness syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
7 |
| syndrome de Furhmann |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Galloway Mowat syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Oro-facial digital syndrome type 10 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Oro-facial digital syndrome type 10 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| syndrome oro-facio-digital type 5 |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| syndrome oro-facio-digital type 5 |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Oro-facial digital syndrome type 8 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Oro-facial digital syndrome type 8 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Severe X-linked intellectual disability Gustavson type (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Ackerman syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Auriculoocular anomaly and cleft lip syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Autism and facial port-wine stain syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| syndrome d'utérus double-hémivagin-agénésie rénale |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |