| 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 |
| syndrome d'utérus double-hémivagin-agénésie rénale |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| syndrome d'utérus double-hémivagin-agénésie rénale |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Duane anomaly, myopathy, scoliosis syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
7 |
| Dystrophic epidermolysis bullosa nails only (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Dystrophic epidermolysis bullosa nails only (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| syndrome de Meacham |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| syndrome de Meacham |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| syndrome de Meacham |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Toriello Carey syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Familial caudal dysgenesis (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Laryngo-onycho-cutaneous syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Ectodermal dysplasia with blindness syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Oro-facial digital syndrome type 10 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| syndrome oro-facio-digital type 5 |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Oro-facial digital syndrome type 8 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Palmoplantar keratoderma Nagashima type (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Perlman syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Auriculoocular anomaly and cleft lip syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Duane anomaly, myopathy, scoliosis syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Ackerman syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Congenital malformation of autonomic nervous system (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| syndrome de kératodermie palmoplantaire-surdité |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Aganglionosis of large intestine (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Congenital dysgenetic ptosis |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Congenital developmental anomaly of cystic duct (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Gomez Lopez Hernandez syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Basal epidermolysis bullosa simplex (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Fluoroscopy guided sclerotherapy of vascular malformation of orbit with contrast |
Direct morphology |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Fluoroscopy guided sclerotherapy of vascular malformation of orbit with contrast |
Indirect morphology |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Endocrine-cerebro-osteodysplasia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Endocrine-cerebro-osteodysplasia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Endocrine-cerebro-osteodysplasia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
7 |
| Faciocardiorenal syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| syndrome de tétralogie de Fallot-petite taille-déficience intellectuelle |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
9 |
| Epidermolysis bullosa simplex with muscular dystrophy (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
7 |
| Faciocardiorenal syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Familial multiple fibrofolliculoma (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Congenital absence of ovary |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Okamoto syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Microlissencephaly micromelia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Ramos Arroyo syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Hypotrichosis with juvenile macular degeneration syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Stern Lubinsky Durrie syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Simpson-Golabi-Behmel syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Embryopathy caused by mycophenolate mofetil (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| syndrome de dysplasie osseuse terminale-défauts de pigmentation |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Simpson Golabi Behmel syndrome type 2 (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Native American myopathy |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Noonan syndrome-like disorder with loose anagen hair (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Noonan syndrome-like disorder with loose anagen hair (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Pili torti onychodysplasia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Pierre Robin sequence faciodigital anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Pierre Robin sequence faciodigital anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Midline cleft of lower lip |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Microlissencephaly micromelia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| syndrome de la maladie cardiaque polyvalvulaire |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Revesz syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
7 |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Clastothrix |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Trichothiodystrophy (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Thymic, renal, anal, lung dysplasia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Thoracolaryngopelvic dysplasia |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Severe generalized recessive dystrophic epidermolysis bullosa (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
4 |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
6 |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
7 |
| Clastothrix |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
3 |
| Pierson syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Trichothiodystrophy (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Renier Gabreels Jasper syndrome (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Transient bullous dermolysis of newborn (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
5 |
| Congenital deformity of left upper limb (disorder) |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
1 |
| Gingival cysts of infant |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |
| Keratosis follicularis, dwarfism, cerebral atrophy syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
7 |
| Parkes Weber syndrome |
morphologie associée (attribut) |
False |
Developmental abnormality |
Inferred relationship |
Some |
2 |