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 |