| 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 |
| Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
7 |
| Xeroderma pigmentosum and Cockayne syndrome complex (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Naxos disease |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| microdélétion 8q22.1 |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Absent thumb with short stature and immunodeficiency syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Wilson Turner syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Renal dysplasia with limb defect syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Van den Ende-Gupta syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Trichodysplasia with amelogenesis imperfecta syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| camptodactylie de Tel Hashomer |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Trigonocephaly with broad thumb syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
7 |
| Trigonocephaly with broad thumb syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
8 |
| Haim Munk syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| X-linked distal arthrogryposis multiplex congenita (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Renal dysplasia with limb defect syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Ulna fibula ray defect and brachydactyly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Chromosome Xq28 trisomy (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Temtamy syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Autosomal dominant limb girdle muscular dystrophy type 1A (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Autosomal dominant limb girdle muscular dystrophy type 1C (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Autosomal dominant limb girdle muscular dystrophy type 1D (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Autosomal dominant limb girdle muscular dystrophy type 1E (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Autosomal dominant limb girdle muscular dystrophy type 1F (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Autosomal dominant limb girdle muscular dystrophy type 1G (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Van den Ende-Gupta syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Trichodysplasia with amelogenesis imperfecta syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Temtamy syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Haim Munk syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
7 |
| camptodactylie de Tel Hashomer |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Taurodontia with absent teeth and sparse hair syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Timothy syndrome type 2 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Congenital anomaly of right ear (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Bilateral medullary sponge kidney (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Tapered teeth (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| syndrome acrootooculaire |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| syndrome acrootooculaire |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Acropectoral syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Acro-pectoro-renal dysplasia |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Acro-pectoro-renal dysplasia |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Acro-pectoro-renal dysplasia |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Acrorenal mandibular syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Acrorenoocular syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Acrorenoocular syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Acrorenoocular syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Acrocephalopolydactyly (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Acrocephalopolydactyly (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Acrocraniofacial dysostosis (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Acromegaloid facial appearance syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Acromegaloid facial appearance syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Acropectorovertebral dysplasia (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Acropectorovertebral dysplasia (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Acropectorovertebral dysplasia (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Acrorenal syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Acrorenal syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
8 |
| Camptodactyly syndrome Guadalajara type 1 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Cardiac anomaly and heterotaxy syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Cardiocranial syndrome Pfeiffer type (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Cardiospondylocarpofacial syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Anencephaly without rachischisis (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Acrocraniofacial dysostosis (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Camptodactyly syndrome Guadalajara type 1 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Congenital anomaly of left ear (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Adducted thumbs and arthrogryposis syndrome Christian type (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Adducted thumbs and arthrogryposis syndrome Christian type (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Aniridia and absent patella syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Athabaskan brainstem dysgenesis syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Bohring Opitz syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Bohring Opitz syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Bosley Salih Alorainy syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Braddock syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Camptodactyly syndrome Guadalajara type 2 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
7 |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
7 |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
9 |
| Adducted thumbs and arthrogryposis syndrome Christian type (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
7 |
| Cardiomyopathy and renal anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
9 |
| Anophthalmia plus syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Cerebro-facio-thoracic dysplasia (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |