21390004: Developmental anomaly (morphologic abnormality)

Status: retired, Primitive. Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1208681014 Developmental abnormality en Synonym Active Case insensitive SNOMED CT core
183282017 Developmental anomaly en Synonym Active Case insensitive SNOMED CT core
188572017 Developmental malformation, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
188573010 Developmental anomaly, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
188574016 Developmental defect, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
188575015 Congenital anomaly, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
190332014 Anomalous formation, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
190333016 Abnormal development, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
190334010 Congenital abnormality, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
190335011 Malformation, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
190336012 Developmental malformation en Synonym Active Case insensitive SNOMED CT core
190337015 Developmental defect en Synonym Active Case insensitive SNOMED CT core
190338013 Dysgenesis en Synonym Active Case insensitive SNOMED CT core
190339017 Anomalous formation en Synonym Active Case insensitive SNOMED CT core
190340015 Abnormal development en Synonym Active Case insensitive SNOMED CT core
190341016 Malformation en Synonym Active Case insensitive SNOMED CT core
190342011 Congenital malformation, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
190343018 Congenital defect, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
190344012 Congenital deformity, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
190345013 Dysgenesis, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
750678013 Developmental anomaly (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Trichoodontoonychial dysplasia	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Diencephalic mesencephalic junction dysplasia	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Diencephalic mesencephalic junction dysplasia	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Congenital anomaly of optic nerve	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Trichodysplasia xeroderma syndrome	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Hypomyelination neuropathy arthrogryposis syndrome	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	3
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	4
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Radio-renal syndrome	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Congenital brain damage	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	3
Hypoplasia of iris	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	3
Congenital dysplasia of right lobe of lung co-occurrent with congenital vascular malformation	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Congenital dysplasia of left lobe of lung co-occurrent with congenital vascular malformation	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Congenital occlusion of anus	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Otopalatodigital syndrome	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	4
Congenital dislocation of radial head	Associated morphology	False	Developmental abnormality	Inferred relationship	Some
Macroencephaly	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Otopalatodigital syndrome	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	5
Placenta multipartita	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Congenital anomaly of toe	Associated morphology	False	Developmental abnormality	Inferred relationship	Some
Hereditary benign acanthosis nigricans	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Keratosis follicularis	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Acral Darier's disease	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Palmar pitting due to Darier disease	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
22q11.2 deletion syndrome	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	3
Congenital instability of right hip joint	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Acrokeratosis verruciformis of Darier disease	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Congenital instability of left hip joint	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Flexural Darier's disease	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Hypertrophic Darier's disease	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Linear/nevoid/zosteriform Darier's disease	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Hereditary benign acanthosis nigricans with insulin resistance	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Lipomeningocele	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	3
Anterior crossbite with destruction of oral mucosa	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	3
Primary tethered cord syndrome	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Primary tethered cord syndrome	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	3
Tall stature, intellectual disability, facial dysmorphism syndrome	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Crater-like optic disc holes	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Impacted incisors	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Impacted premolars	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Impacted molars	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Embedded teeth	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Traction oesophageal diverticulum	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Acquired oesophagocoele	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Placenta praevia without haemorrhage	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Placenta praevia without haemorrhage - delivered	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Placenta previa without hemorrhage - not delivered	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Placenta praevia with haemorrhage	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Placenta previa with hemorrhage - delivered	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Placenta previa with hemorrhage - not delivered	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Acquired equinovarus - clubfoot	Associated morphology	False	Developmental abnormality	Inferred relationship	Some
Anencephalus and similar anomalies	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Cervical spina bifida with hydrocephalus - open	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	7
Thoracic spina bifida with hydrocephalus - open	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	7
Lumbar spina bifida with hydrocephalus - open	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	8
Sacral spina bifida with hydrocephalus - open	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	7
Spina bifida with hydrocephalus - closed	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	6
Cervical spina bifida with hydrocephalus - closed	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	6
Thoracic spina bifida with hydrocephalus - closed	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	6
Lumbar spina bifida with hydrocephalus - closed	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	6
Sacral spina bifida with hydrocephalus - closed	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	6
Encephalomyelocele	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	3
Cranial hydromeningocele	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Aplasia of corpus callosum	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Congenital atresia of foramen of Magendie	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Congenital atresia of foramen of Luschka	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	3
Congenital corneal opacity with visual deficit	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Congenital corneal opacity without visual deficit	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Aplasia of iris	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Coronary artery from aorta	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	3
Congenital oesophageal fistula	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Oesophagobronchial fistula	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Imperforate oesophagus	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Congenital displacement of oesophagus	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Giant oesophagus	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Congenital pyloric hypertrophy	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Congenital pyloric spasm	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Congenital pyloric stenosis	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Ectopic gastric mucosa	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Congenital floating liver	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Liver hyperplasia	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Anomalies of pancreas	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Epoophoron cyst	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Doubling of uterus	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Agenesis of vulva	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Congenital aplasia of testicle	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Congenital aplasia of testicle	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Hypoplasia of testis	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Hypoplasia of testis	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Hypoplasia of scrotum	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Hypoplasia of scrotum	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Hydatid cyst of Morgagni - male	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Hydatid cyst of Morgagni - male	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Hydatid cyst of Morgagni - female	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Wolffian duct cyst - female	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Female hypospadias	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	1
Female hypospadias	Associated morphology	False	Developmental abnormality	Inferred relationship	Some	2
Congenital dislocation and subluxation of the hip	Associated morphology	False	Developmental abnormality	Inferred relationship	Some
Congenital subluxation of hip, bilateral	Associated morphology	False	Developmental abnormality	Inferred relationship	Some
Unilateral dysplastic hip	Associated morphology	False	Developmental abnormality	Inferred relationship	Some

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Reference Sets

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Description inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set

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Id	Description	Lang	Type	Status	Case?	Module
1208681014	Developmental abnormality	en	Synonym	Active	Case insensitive	SNOMED CT core
183282017	Developmental anomaly	en	Synonym	Active	Case insensitive	SNOMED CT core
188572017	Developmental malformation, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
188573010	Developmental anomaly, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
188574016	Developmental defect, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
188575015	Congenital anomaly, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
190332014	Anomalous formation, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
190333016	Abnormal development, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
190334010	Congenital abnormality, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
190335011	Malformation, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
190336012	Developmental malformation	en	Synonym	Active	Case insensitive	SNOMED CT core
190337015	Developmental defect	en	Synonym	Active	Case insensitive	SNOMED CT core
190338013	Dysgenesis	en	Synonym	Active	Case insensitive	SNOMED CT core
190339017	Anomalous formation	en	Synonym	Active	Case insensitive	SNOMED CT core
190340015	Abnormal development	en	Synonym	Active	Case insensitive	SNOMED CT core
190341016	Malformation	en	Synonym	Active	Case insensitive	SNOMED CT core
190342011	Congenital malformation, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
190343018	Congenital defect, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
190344012	Congenital deformity, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
190345013	Dysgenesis, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
750678013	Developmental anomaly (morphologic abnormality)	en	Fully specified name	Active	Case insensitive	SNOMED CT core