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
utvecklingsabnormitet	Is a	kongenital anomali	false	Inferred relationship	Some
utvecklingsabnormitet	Is a	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
SCARF syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Deafness, vitiligo, achalasia syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	7
Congenital anomaly of bone of shoulder girdle (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital mandibular asymmetry	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital maxillary asymmetry	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Developmental anomaly of root of tooth (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Fetal genitourinary abnormality (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Fetal genitourinary abnormality (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Malformation of central nervous system of fetus (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Malformation of central nervous system of fetus (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Juvenile osteochondrosis of right tarsal navicular (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Juvenile osteochondrosis of left tarsal navicular	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Juvenile osteochondrosis of right second metatarsal	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Juvenile osteochondrosis of left second metatarsal	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital conductive hearing loss	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
medfödd triggertumme på båda händerna	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
medfödd triggertumme på båda händerna	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital trigger finger of right hand	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital trigger finger of left hand (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
utvecklingsanomali i tand	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Developmental anomaly of periodontal tissue	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Pseudovaginal perineoscrotal hypospadias	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Retinitis pigmentosa-deafness syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Retinitis pigmentosa-deafness-ataxia syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Gorlin-Chaudhry-Moss syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Oculo-palato-digital syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Oculo-palato-digital syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Usher syndrome type 1	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Usher syndrome type 2 (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
hypogonadism, diabetes mellitus, alopeci, psykisk utvecklingsstörning och elektrokardiografiska avvikelser	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Floating-Harbour syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Kabuki make-up syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Solitary median maxillary central incisor syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Correction of congenital deformity of hand	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Correction of mirror hand	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Repositioning of thumb for cleft hand	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Realignment of congenital ulnar drift	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Pericarditis secondary to Mulibrey nanism	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Congenital anomaly of zonula	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital anomaly of great vessel	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Common arterial trunk with aortic dominance (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	6
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	7
Hereditary skin peeling syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	12
Congenital myopathy with myasthenic-like onset (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Connective tissue disorder due to lysyl hydroxylase-3 deficiency	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Craniofaciofrontodigital syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital patent ductus arteriosus aneurysm	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Lethal congenital contracture syndrome type 5	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Cerebrofacioarticular syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Facial dysmorphism, cleft palate, loose skin syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital muscular dystrophy with hyperlaxity (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Ichthyosis prematurity syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Lethal multiple pterygium syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
X-linked lethal multiple pterygium syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Lethal multiple pterygium syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Velofacioskeletal syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Primary laryngeal lymphangioma	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
White forelock with malformations syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Trichodermodysplasia and dental alterations syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
46,XY ovotesticular disorder of sex development	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Familial multiple nevi flammei (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Familial vesicoureteral reflux (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Finnish upper limb onset distal myopathy	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Wiedemann Steiner syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Hypotonia, speech impairment, severe cognitive delay syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Intellectual disability, alacrima, achalasia syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Intellectual disability, polydactyly, uncombable hair syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Intellectual disability Wolff type	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Dislocation of hip and facial dysmorphism syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Autosomal recessive exfoliative ichthyosis (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
KLHL9-related early-onset distal myopathy	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Malan overgrowth syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Agenesis of corpus callosum and abnormal genitalia syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Oculoauricular syndrome Schorderet type	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Odonto onycho dysplasia with alopecia syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Oculomaxillofacial dysostosis (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Mohr syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Oral-facial-digital syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Orofacial-digital syndrome III	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Orofacial-digital syndrome IV	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Oro-facial digital syndrome type 9 (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Oro-facial digital syndrome type 10 (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Oro-facial digital syndrome type 5 (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Oro-facial digital syndrome type 8 (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Oro-facial digital syndrome type 1 (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Oro-facial digital syndrome type 12	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	7
Oro-facial digital syndrome type 14	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	6
Otofaciocervical syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Oro-facial digital syndrome type 13	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	6
Renal hepatic pancreatic dysplasia (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Oculopharyngodistal myopathy (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Familial isolated trichomegaly	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Cylindrical spirals myopathy (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1

Start Previous Page 70 of 73 Next End

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

Back to Start

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
188572017	Developmental malformation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
188573010	Developmental anomaly, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
188574016	Developmental defect, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
188575015	Congenital anomaly, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190332014	Anomalous formation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190333016	Abnormal development, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190334010	Congenital abnormality, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190335011	Malformation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character 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
190342011	Congenital malformation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190343018	Congenital defect, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190344012	Congenital deformity, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190345013	Dysgenesis, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character 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
41911000052118	utvecklingsabnormitet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)