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 absence of metatarsal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital absence of tail	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital absence of talus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital absence of tarsal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital absence of paw	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Hereditary skin peeling syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	12
Congenital myopathy with myasthenic-like onset (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Connective tissue disorder due to lysyl hydroxylase-3 deficiency	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Craniofaciofrontodigital syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital patent ductus arteriosus aneurysm	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Cerebrofacioarticular syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Facial dysmorphism, cleft palate, loose skin syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital muscular dystrophy with hyperlaxity (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Bilateral acheiria	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Bilateral congenital absence of feet	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Bilateral crossbite	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Buccal crossbite	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital bowing of tibia and/or fibula (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Ichthyosis prematurity syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
forme létale du syndrome des ptérygiums multiples (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
X-linked lethal multiple pterygium syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
forme létale du syndrome des ptérygiums multiples (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Velofacioskeletal syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Primary laryngeal lymphangioma	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
syndrome de mèches blanches et anomalies multiples	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Trichodermodysplasia and dental alterations syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
46,XY ovotesticular disorder of sex development	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Familial multiple nevi flammei (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Familial vesicoureteral reflux (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Finnish upper limb onset distal myopathy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Caudal hemivertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Cervical hemivertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital abnormal fusion of calcaneus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal fusion of carpal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal fusion of femur	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal fusion of fibula	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal fusion of forepaw phalanx	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal fusion of hindpaw phalanx	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal fusion of humerus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal fusion of liver lobes	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital abnormal fusion of metacarpal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal fusion of metatarsal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal fusion of radius	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal fusion of talus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal fusion of tarsal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal fusion of tibia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal fusion of ulna	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal long growth of bile duct	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital abnormal shape of calcaneus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal shape of carpal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal shape of cerebellum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital abnormal shape of cerebrum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital abnormal shape of clavicle	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal shape of digit	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal shape of femur	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal shape of fibula	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal shape of forepaw phalanx	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Wiedemann Steiner syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital abnormal shape of gallbladder	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital abnormal shape of hindpaw phalanx	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital abnormal shape of humerus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal shape of liver	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital abnormal shape of metacarpal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal shape of metatarsal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal shape of ovary	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital abnormal shape of fallopian tube (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital abnormal shape of radius	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal shape of talus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal shape of tarsal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal shape of testis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital abnormal shape of testis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital abnormal shape of tibia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal shape of ulna	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital abnormal shape of uterus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Agenesis of clavicle	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital absence of genital tubercle	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital absence of gonads	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Intellectual disability, alacrima, achalasia syndrome (disorder)	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	3
Intellectual disability Wolff type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Dislocation of hip and facial dysmorphism syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Autosomal recessive exfoliative ichthyosis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
KLHL9-related early-onset distal myopathy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital absence of fallopian tube	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital ankylodactyly	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital bent clavicle	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital bent humerus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital bent radius	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital bent tail	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital bent ulna	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital anomaly of animal tail	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital anomaly of claw	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital anomaly of oviduct	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of paw	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital anomaly of pericardium	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital atresia of uterus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital bilobed gallbladder	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1

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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