21390004: Developmental anomaly (morphologic abnormality)

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

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cordate pelvis	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Duplication of whole hand	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital cholesteatoma	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital pulmonary lymphangiectasis	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Duplication of radius	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Manus flexa	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital aganglionic megacolon	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital retinal fold	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital malposition of nasal turbinate	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Axillary freckling due to neurofibromatosis (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Congenital anomaly of diaphragm	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital hereditary muscular dystrophy (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital malposition of pinna	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Nasofrontal encephalocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Congenital cubitus varus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital anomaly of thorax	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital anomaly of caudal vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Sacral spina bifida without hydrocephalus - open	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Sacral spina bifida without hydrocephalus - open	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Congenital hyperextension of limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Manus cava	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Gonadal dysgenesis	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Perodactylia of great toe	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Commissural lip pits	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Dumbbell ossification of centrum of lumbar vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Manus plana	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Hemicentric lumbar centrum	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital anomaly of thyroid cartilage	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Macroencephaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Congenital cortical cataract	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Displacement of Wharton's duct	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Duplication of tarsal bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital undergrowth of partial lower limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital malformation of corpus callosum	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Ventricular septal defect with malaligned outlet septum (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital corneal opacity	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Spina bifida	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Spina bifida	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Dysgenesis of lacrimal punctum (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Neck webbing (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital spinal hydromeningocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Congenital spinal hydromeningocele	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	6
Congenital anomaly of lens	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital anomaly of appendix	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Lack of ossification of tarsal bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital bent ischium	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital parameatal cyst	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Vascular neurocutaneous syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Windblown hand	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Sacral dysgenesis	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Sturge-Weber syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Congenital anomaly of pharynx	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Dolichopellic pelvis	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital malformation of anterior abdominal wall	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Repair of lop ear	Direct morphology	False	Developmental anomaly	Inferred relationship	Some	2
Transient infantile osteopetrosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Thyroglossal duct anomaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital hypoplasia of ovary	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Weissenbacher-Zweymuller syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Mixed congenital myopathy	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Incomplete ossification of centrum of cervical vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital strabismus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital retraction of nipple	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Duchenne muscular dystrophy	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Duplication of femur	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital malposition of sacral vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital corneal opacity interfering with vision	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
X-linked muscular dystrophy not predominantly limb girdle (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Orbital dystopia	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital tracheomalacia	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Congenital anomaly of the pelvis	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital bowing of tibia, fibula and femur	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Cortical and zonular cataract	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Total and subtotal congenital cataract	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Congenital malposition of lumbar vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital subtotal cataract	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Testicular dysgenesis syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Aganglionosis of Auerbach's plexus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Congenital anomaly of musculoskeletal system	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Lack of ossification of arch of sacral vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Myelocele with hydrocephalus (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	6
Myelocele with hydrocephalus (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	7
Congenital anomalies of elbow and upper arm	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Developmental displacement of brachial plexus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Polydactyly of toes	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Manus valga	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
A congenital anomaly of a vertebra in which it develops characteristic(s) of the adjoining structure or region.	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Reniform pelvis	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Duplication of humerus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Lack of ossification of metatarsal bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Inverted pelvis	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Defect of vertebral segmentation	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital double lip	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Congenital iris ectropion (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Supernumerary metatarsal bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Reduction deformities of brain	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Patent ductus arteriosus with right-to-left shunt (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital misalignment of arch of thoracic vertebra	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2

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Id	Description	Lang	Type	Status	Case?	Module
183282017	Developmental anomaly	en	Synonym (core metadata concept)	Active	Entire term 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
750678013	Developmental anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1208681014	Developmental abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core