| Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
| 183282017 |
Developmental anomaly |
en |
Synonym |
Active |
Entire term case insensitive |
SNOMED CT core module |
| 188572017 |
Developmental malformation, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 188573010 |
Developmental anomaly, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 188574016 |
Developmental defect, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 188575015 |
Congenital anomaly, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 190332014 |
Anomalous formation, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 190333016 |
Abnormal development, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 190334010 |
Congenital abnormality, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 190335011 |
Malformation, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 190336012 |
Developmental malformation |
en |
Synonym |
Active |
Entire term case insensitive |
SNOMED CT core module |
| 190337015 |
Developmental defect |
en |
Synonym |
Active |
Entire term case insensitive |
SNOMED CT core module |
| 190338013 |
Dysgenesis |
en |
Synonym |
Active |
Entire term case insensitive |
SNOMED CT core module |
| 190339017 |
Anomalous formation |
en |
Synonym |
Active |
Entire term case insensitive |
SNOMED CT core module |
| 190340015 |
Abnormal development |
en |
Synonym |
Active |
Entire term case insensitive |
SNOMED CT core module |
| 190341016 |
Malformation |
en |
Synonym |
Active |
Entire term case insensitive |
SNOMED CT core module |
| 190342011 |
Congenital malformation, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 190343018 |
Congenital defect, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 190344012 |
Congenital deformity, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 190345013 |
Dysgenesis, NOS |
en |
Synonym |
Inactive |
Only initial character case insensitive |
SNOMED CT core module |
| 750678013 |
Developmental anomaly (morphologic abnormality) |
en |
Fully specified name |
Active |
Entire term case insensitive |
SNOMED CT core module |
| 1208681014 |
Developmental abnormality |
en |
Synonym |
Active |
Entire term case insensitive |
SNOMED CT core module |
| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Congenital malformation of eye, ear and neck |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Congenital malformation of eye, ear and neck |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Platyspondylia |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital bent radius |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital undergrowth of whole of lower limb |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Lack of ossification of scapula |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Rudimentary arm |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital nuclear ophthalmoplegia |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Central core disease |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Incomplete ossification of metacarpal bone |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Incomplete ossification of scapula |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Juvenile pelvis |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Tuberous sclerosis syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Congenital anomaly of cervical vertebra |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Rieger syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Supernumerary centrum of sacral vertebra |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Incomplete ossification of hyoid bone |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Pelvis justo minor |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Extralobar bronchopulmonary sequestration |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Anomalies of hypothalamus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital anomaly of lip |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Complete aphalangia of upper limb |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Cervical spina bifida with hydrocephalus - closed |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
| Cervical spina bifida with hydrocephalus - closed |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
5 |
| Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
| Congenital anomaly of ossicles of ear |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Muscular ventricular septal defect in apical trabecular septum |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Reduction deformity of upper limb |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Spina bifida aperta of lumbar spine |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
| Spina bifida aperta of lumbar spine |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
5 |
| Lethal white syndrome of foals |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Cervical auricle |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Pulmonary atresia with ventricular septal defect of Fallot type |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Ectopic bone and cartilage in lung |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Rotational orbital dystopia |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Synechia vulvae |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Undergrowth of upper limb |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Abnormal liver lobulation |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Incomplete ossification of premaxilla |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
| Partial aphalangia of upper limb |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital malposition of ovary |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Camptodactyly |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Congenital laryngeal abductor palsy |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital anomaly of male genital system |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Duane's syndrome, type 3 |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Cervical thymic remnant |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Pit of optic disc |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Type 1 lissencephaly |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital cerebral meningocele |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
| Cerebro-oculo-facio-skeletal syndrome |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Amyoplasia congenita disruptive sequence |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Macrophthalmos |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital spade-like hand |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Ear, face and neck congenital anomalies |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Ear, face and neck congenital anomalies |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Ear, face and neck congenital anomalies |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
| Congenital anomaly of subcutaneous tissue |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Thyroglossal duct sinus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Low set ears |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Testicular dysgenesis |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Supernumerary lacrimal punctum |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Myotubular myopathy with type I atrophy |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Myelocystocele |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Myelocystocele |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
| Talipes equinus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Optic disc structural anomaly |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital corneal keloid |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
| Lack of ossification of hyoid bone |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Myelinated nerve fibers of optic disc |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Oculodento-osseous dysplasia - mild type |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Congenital anomaly of ear with impairment of hearing |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Clinodactyly with delta phalanx |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital neuropathy with arthrogryposis multiplex congenita |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Status marmoratus |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital anomaly of metatarsal bone |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Muscle eye brain disease |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Gastroschisis |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
| Congenital thickening of radius |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Incomplete ossification of arch of cervical vertebra |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital overgrowth of distal lower limb |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Doubly committed subarterial ventricular septal defect with membranous septum extension |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Split spinal cord malformation |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
1 |
| Hemicentric sacral centrum |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Radioulnar dysostosis |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Lumbar spina bifida with hydrocephalus - closed |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
| Lumbar spina bifida with hydrocephalus - closed |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
5 |
| Spina bifida of sacral region |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Spina bifida of sacral region |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
| Persistent thyroglossal duct |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |
| Encephalocele of orbit |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
| Congenital anomaly of blood vessel of upper limb |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Trilobular liver |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Peutz-Jeghers polyps of small bowel |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
5 |
| Congenital degeneration of nervous system |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Mirror hands |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital lip pits |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital lateral curvature of penis |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
4 |
| X-linked muscular dystrophy with abnormal dystrophin |
Associated morphology |
False |
Developmental anomaly |
Inferred relationship |
Existential restriction modifier |
3 |