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 abnormality	est un(e) (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some
Developmental abnormality	est un(e) (attribut)	Congenital anomaly	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital cerebellar hypoplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Imperforate vagina	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital generalized flexion contractures of lower limb joints	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital absence of pelvis and lower limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Absent pelvis and lower limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Cranial hydromeningocele	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital spade-like hand	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Talipomanus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Longitudinal deficiency of humerus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
dysplasie ectodermique tricho-odonto-onychiale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Intermediate anorectal malformation (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Incomplete congenital absence of thigh AND leg	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
dysplasie ectodermique tricho-odonto-onychiale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
SCARF syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Paravaginal cyst arising in mesonephric duct	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital cerebellar cortical atrophy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Total anodontia of permanent and deciduous teeth	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
SCARF syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Congenital absence of leg with foot AND toes	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital absence of uterus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital clinodactyly	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Fusion of teeth	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Polyorchism	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Polyorchism	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital subluxation of carpus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Mohr syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Leri-Weill dyschondrosteosis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Trichorhinophalangeal syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Epispadias	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Epispadias	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Deafness, vitiligo, achalasia syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Defective development of cauda equina	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
H-type congenital tracheo-oesophageal fistula	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital anomaly of bone of shoulder girdle (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Ovotestis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
syndrome de Holt-Oram	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Placenta reflexa	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital syphilitic hepatomegaly	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital mandibular asymmetry	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital maxillary asymmetry	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Immature abnormal placenta	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Developmental anomaly of root of tooth (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Placenta extrachorales	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital cerebral cyst	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Longitudinal absence of radius AND ulna	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Accessory carpal bones	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Fetal genitourinary abnormality (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Fetal genitourinary abnormality (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Calcaneonavicular bar	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Torsion of accessory fallopian tube	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Malformation of central nervous system of fetus (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Malformation of central nervous system of fetus (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
cubitus varus congénital	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital liver grooves	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of finger	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Anisomelia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Juvenile osteochondrosis of right tarsal navicular (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Juvenile osteochondrosis of left tarsal navicular	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Juvenile osteochondrosis of right second metatarsal	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Juvenile osteochondrosis of left second metatarsal	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Ambiguous genitalia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Double uterus affecting pregnancy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital conductive hearing loss	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital trigger thumb of bilateral hands (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital trigger thumb of bilateral hands (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital trigger finger of right hand	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital trigger finger of left hand (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Accessory broad ligament	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Developmental anomaly of tooth (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Developmental anomaly of periodontal tissue	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Manus valga	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Single coronary artery	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Natal tooth	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital valgus deformity of foot	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Uterus bilocularis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Phocomelia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital septation of gallbladder	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
anomalie longitudinale des phalanges d'une main	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Macrogyria	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Vertical overbite	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Multiple malformation syndrome with facial-limb defects as major feature	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
pied plat congénital	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Pseudovaginal perineoscrotal hypospadias	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital stenosis of vagina	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital stenosis of vagina	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Metatarsus adductus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital dislocation of shoulder	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Anomaly of dental arch	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Meromicrosomia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Placenta circumvallata	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
iniencéphalie	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Posterior open bite	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
syndrome associant rétinite pigmentaire et surdité	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Retinitis pigmentosa-deafness-ataxia syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Gorlin-Chaudhry-Moss syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Oculo-palato-digital syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Oculo-palato-digital syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Usher syndrome type 1	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2

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Id	Description	Lang	Type	Status	Case?	Module
1208681014	Developmental abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
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
64781000077117	anomalie du développement	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
686791000077119	anomalie du développement (anomalie morphologique)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
750678013	Developmental anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core