| 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 |
| Oro-facial digital syndrome type 11 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
10 |
| Oro-facial digital syndrome type 11 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
11 |
| Isolated cryptophthalmos (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Oro-facial digital syndrome type 11 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
12 |
| Mammary digital nail syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Oro-facial digital syndrome type 9 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Embryonic cyst of fallopian tube |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Congenital extension contracture of the knee |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Transverse deficiency of hand |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Transverse arrest metacarpal second to fifth rays |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Congenital absence of multiple toes |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Duplication of lower limb |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
|
| Paratubal cyst arising in mesonephric duct |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| dystrophie musculaire des ceintures autosomique dominante type 1B |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Zellweger-like syndrome without peroxisomal anomaly (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| X-linked intellectual disability Seemanova type (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Syndromic X-linked intellectual disability type 11 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| X-linked intellectual disability Siderius type (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| X-linked intellectual disability Stevenson type (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| X-linked intellectual disability Stevenson type (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability Stocco Dos Santos type (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| X-linked intellectual disability Stoll type (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| X-linked intellectual disability Pai type (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| X-linked intellectual disability Miles Carpenter type (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| X-linked intellectual disability Armfield type (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| X-linked intellectual disability Abidi type (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Pallister W syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| DK phocomelia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Carpenter Waziri syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Carpenter Waziri syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| syndrome de déficience intellectuelle liée à l'X-dysmorphie-atrophie cérébrale |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Lissencephaly due to tubulin alpha 1A mutation (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| WT limb blood syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| 14q11.2 microdeletion syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| syndrome de déficience intellectuelle liée à l'X-dysmorphie-atrophie cérébrale |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Sparse hair with short stature and skin anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Smith Fineman Myers syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Smith Fineman Myers syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Short stature Brussels type (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
8 |
| X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Self-healing collodion baby (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Acral self-healing collodion baby (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Sparse hair with short stature and skin anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Pyknoachondrogenesis (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Shprintzen Goldberg craniosynostosis syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Pyknoachondrogenesis (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
7 |
| Spinocerebellar ataxia type 34 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| BSG syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| BSG syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| BSG syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Pelviscapular dysplasia |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Stapes ankylosis with broad thumb and toe syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Steatocystoma multiplex with natal tooth syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Hadziselimovic syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Hadziselimovic syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Lethal faciocardiomelic dysplasia (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Lethal faciocardiomelic dysplasia (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Lethal omphalocele with cleft palate syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
10 |
| Stapes ankylosis with broad thumb and toe syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Hadziselimovic syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Microcephalus with albinism and digital anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
7 |
| Lelis syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Late-onset junctional epidermolysis bullosa (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
8 |
| Microcephalus with albinism and digital anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
9 |
| Microcephalus cleft palate syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Disorder of sex development with intellectual disability syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Postaxial polydactyly type A (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Postaxial polydactyly type B (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| syndrome de fibromatose gingivale-dysmorphie faciale |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| X-linked intellectual disability Cabezas type (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| X-linked intellectual disability with plagiocephaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| X-linked mandibulofacial dysostosis (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| X-linked myopathy with excessive autophagy (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Xeroderma pigmentosum and Cockayne syndrome complex (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
7 |
FHIR