21390004: Developmental anomaly (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2021. Module: SNOMED CT core module

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Developmental anomaly	Is a	Congenital anomaly	false	Inferred relationship	Existential restriction modifier
Developmental anomaly	Is a	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cordate pelvis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Duplication of whole hand	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital cholesteatoma	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital pulmonary lymphangiectasis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Duplication of radius	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Manus flexa	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Hirschsprung's disease	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital retinal fold	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital malposition of nasal turbinate	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Axillary freckling due to neurofibromatosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Congenital anomaly of diaphragm	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of bone and joint	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital hereditary muscular dystrophy	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital malposition of pinna	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Nasofrontal encephalocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Congenital cubitus varus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of thorax	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of caudal vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Sacral spina bifida without hydrocephalus - open	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Sacral spina bifida without hydrocephalus - open	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Congenital hyperextension of limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Manus cava	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Gonadal dysgenesis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Perodactylia of great toe	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Commissural lip pits	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Distal arthrogryposis syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Dumbbell ossification of centrum of lumbar vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Manus plana	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Hemicentric lumbar centrum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of thyroid cartilage	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Macroencephaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital cortical cataract	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Displacement of Wharton's duct	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Duplication of tarsal bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital undergrowth of partial lower limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital malformation of corpus callosum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Ventricular septal defect with malaligned outlet septum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital corneal opacity	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Spina bifida	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Spina bifida	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Dysgenesis of lacrimal punctum	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Neck webbing	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital spinal hydromeningocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Congenital spinal hydromeningocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	6
Congenital anomaly of lens	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of appendix	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Lack of ossification of tarsal bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital bent ischium	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital parameatal cyst	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Vascular neurocutaneous syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Windblown hand	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Sacral dysgenesis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Sturge-Weber syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Congenital anomaly of pharynx	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Dolichopellic pelvis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital malformation of anterior abdominal wall	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Repair of lop ear	Direct morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Transient infantile osteopetrosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Thyroglossal duct anomaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital hypoplasia of ovary	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Weissenbacher-Zweymuller syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Mixed congenital myopathy	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Incomplete ossification of centrum of cervical vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital strabismus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Congenital retraction of nipple	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Duchenne muscular dystrophy	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Duplication of femur	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital malposition of sacral vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital corneal opacity interfering with vision	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
X-linked muscular dystrophy not predominantly limb girdle	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Orbital dystopia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital tracheomalacia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Congenital anomaly of the pelvis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital bowing of tibia, fibula and femur	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Cortical and zonular cataract	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Total and subtotal congenital cataract	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital malposition of lumbar vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital subtotal cataract	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Testicular dysgenesis syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Aganglionosis of Auerbach's plexus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Congenital anomaly of musculoskeletal system	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Lack of ossification of arch of sacral vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Myelocele with hydrocephalus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	6
Myelocele with hydrocephalus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	7
Congenital anomalies of elbow and upper arm	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Developmental displacement of brachial plexus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Polydactyly of toes	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Manus valga	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Transitional vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Reniform pelvis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Duplication of humerus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Lack of ossification of metatarsal bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Inverted pelvis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Defect of vertebral segmentation	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital double lip	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital iris ectropion	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Supernumerary metatarsal bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Reduction deformities of brain	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Patent ductus arteriosus with right-to-left shunt	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital misalignment of arch of thoracic vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2

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Id	Description	Lang	Type	Status	Case?	Module
183282017	Developmental anomaly	en	Synonym	Active	Entire term 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
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