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 anomaly of iris	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Cleft hand - first cleft	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital malformation of eye, ear and neck	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital malformation of eye, ear and neck	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital malformation of eye, ear and neck	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Platyspondylia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital bent radius	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital undergrowth of whole of lower limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Lack of ossification of scapula	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
bras rudimentaire	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital nuclear ophthalmoplegia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
myopathie congénitale à "central cores" (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Incomplete ossification of metacarpal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Incomplete ossification of scapula	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Juvenile pelvis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Tuberous sclerosis syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital anomaly of cervical vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Rieger syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Supernumerary centrum of sacral vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Incomplete ossification of hyoid bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Pelvis justo minor (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Extralobar bronchopulmonary sequestration	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Anomalies of hypothalamus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of lip	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Complete aphalangia of upper limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Cervical spina bifida with hydrocephalus - closed	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Cervical spina bifida with hydrocephalus - closed	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital anomaly of ossicles of ear	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Muscular ventricular septal defect in apical trabecular septum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
déformation associée à une réduction d'un membre supérieur	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Spina bifida aperta of lumbar spine (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Spina bifida aperta of lumbar spine (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Lethal white syndrome of foals (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Cervical auricle	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Pulmonary atresia with ventricular septal defect of Fallot type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ectopic bone and cartilage in lung	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Rotational orbital dystopia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Synechia vulvae	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Undergrowth of upper limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Abnormal liver lobulation	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Incomplete ossification of premaxilla	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Partial aphalangia of upper limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital malposition of ovary	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Camptodactyly	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital laryngeal abductor palsy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
anomalie congénitale de l'appareil génital masculin	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Duane's syndrome, type 3	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Cervical thymic remnant	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Pit of optic disc	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Type 1 lissencephaly	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
méningocèle cérébrale congénitale (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Cerebro-oculo-facio-skeletal syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Amyoplasia congenita disruptive sequence	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Macrophthalmos	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital spade-like hand	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ear, face and neck congenital anomalies	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ear, face and neck congenital anomalies	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Ear, face and neck congenital anomalies	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital anomaly of subcutaneous tissue (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Thyroglossal duct sinus (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Low set ears	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Testicular dysgenesis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Supernumerary lacrimal punctum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Myotubular myopathy with type I atrophy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
myélocystocèle	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
myélocystocèle	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Talipes equinus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Optic disc structural anomaly (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital corneal keloid (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Lack of ossification of hyoid bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
fibres nerveuses myélinisées du disque optique	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Oculodento-osseous dysplasia - mild type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital anomaly of ear with impairment of hearing	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Clinodactyly with delta phalanx	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital neuropathy with arthrogryposis multiplex congenita	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Status marmoratus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of metatarsal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Muscle eye brain disease	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Gastroschisis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital thickening of radius	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Incomplete ossification of arch of cervical vertebra	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital overgrowth of distal lower limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
communication interventriculaire subartérielle, subaortique et subpulmonaire avec extension au septum membraneux	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Split spinal cord malformation (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Hemicentric sacral centrum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Radioulnar dysostosis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Lumbar spina bifida with hydrocephalus - closed	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Lumbar spina bifida with hydrocephalus - closed	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Spina bifida of sacral region (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Spina bifida of sacral region (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Persistent thyroglossal duct	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Encephalocele of orbit	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital anomaly of blood vessel of upper limb (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Trilobular liver	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Peutz-Jeghers polyps of small bowel (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Congenital degeneration of nervous system	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Mirror hands	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