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 narrowed tail	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Oro-facial digital syndrome type 13	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Congenital short tail	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Renal hepatic pancreatic dysplasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital thickening of clavicle	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital thickening of femur	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital thickening of fibula	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital thickening of forepaw phalanx	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital thickening of hindpaw phalanx	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital thickening of humerus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital thickening of radius	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital thickening of talus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital thickening of tarsal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital thickening of tibia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital thickening of ulna	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Generalized macrodontia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Oculopharyngodistal myopathy (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Holorachischisis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
dysplasie olfactogénitale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Incomplete ossification of calcaneus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Incomplete ossification of carpal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Incomplete ossification of clavicle	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Incomplete ossification of femur	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Incomplete ossification of fibula	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Incomplete ossification of forepaw phalanx	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Incomplete ossification of hindpaw phalanx	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Incomplete ossification of humerus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Incomplete ossification of metacarpal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Incomplete ossification of metatarsal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Incomplete ossification of radius	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Incomplete ossification of talus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Incomplete ossification of tarsal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Incomplete ossification of tibia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Incomplete ossification of ulna	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Lack of ossification of calcaneus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Lack of ossification of carpal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Lack of ossification of clavicle	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Lack of ossification of femur	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Familial isolated trichomegaly	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Cylindrical spirals myopathy (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Verloove Vanhorick Brubakk syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Branchiootic syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
myopathie distale précoce type Laing	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Intellectual disability Birk-Barel type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital muscular dystrophy type 1B	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital myopathy with internal nuclei and atypical cores (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Cryptorchidism, arachnodactyly, intellectual disability syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
King Denborough syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Otofaciocervical syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Otofaciocervical syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Connective tissue disorder due to lysyl hydroxylase-3 deficiency	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Oro-facial digital syndrome type 9 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Oro-facial digital syndrome type 11 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Branchiootic syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Facial dysmorphism, cleft palate, loose skin syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Short stature, wormian bones, dextrocardia syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Spina bifida and hypospadias syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Spina bifida and hypospadias syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Oro-facial digital syndrome type 14	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Oro-facial digital syndrome type 14	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Intellectual disability, polydactyly, uncombable hair syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Oro-facial digital syndrome type 8 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Velofacioskeletal syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Wooly hair with palmoplantar keratoderma syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
syndrome de déficience intellectuelle-obésité-malformations cérébrales-dysmorphie faciale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
syndrome de déficience intellectuelle-obésité-malformations cérébrales-dysmorphie faciale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Oro-facial digital syndrome type 10 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Verloove Vanhorick Brubakk syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Verloove Vanhorick Brubakk syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Wiedemann Steiner syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Leukonychia totalis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
syndrome de mèches blanches et anomalies multiples	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
syndrome de mèches blanches et anomalies multiples	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
syndrome de mèches blanches et anomalies multiples	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
syndrome de mèches blanches et anomalies multiples	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Joubert syndrome with orofaciodigital defect (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Prelingual non-syndromic genetic deafness (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
syndrome oculo-auriculaire type Schorderet	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Oro-facial digital syndrome type 1 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Oro-facial digital syndrome type 1 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Oro-facial digital syndrome type 1 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
syndrome oro-facio-digital type 5	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
King Denborough syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Postlingual non-syndromic genetic deafness	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Trichodermodysplasia and dental alterations syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Trichodermodysplasia and dental alterations syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Cerebrofacioarticular syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6

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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