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
Puerto Rican infant hypotonia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Schilbach Rott syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Robinow-like syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Glossopalatine ankylosis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Goldberg Shprintzen megacolon syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	9
syndrome de malformations cérébrales-cardiopathie congénitale-polydactylie postaxiale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Hypomandibular faciocranial dysostosis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Robinow-like syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Ostium primum defect	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Atrial septal defect with endocardial cushion defect, partial type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Persistent ostium secundum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Lutembacher's syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Malaligned atrial septum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Double outlet right atrium	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Double outlet left atrium	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Congenital atrial septal defect (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Restrictive interatrial communication with obligatory shunt (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Blepharonasofacial malformation syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Joubert syndrome with orofaciodigital defect (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Limb mammary syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Lung agenesis with heart defect and thumb anomaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Lung agenesis with heart defect and thumb anomaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Lymphedema, atrial septal defect, facial changes syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Interatrial communication through coronary sinus orifice (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Thoracic insufficiency syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Klippel Trenaunay syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Joubert syndrome with orofaciodigital defect (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Microphthalmia with linear skin defect syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Joubert syndrome with orofaciodigital defect (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	9
Lowry MacLean syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Blepharocheilodontic syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Isotretinoin embryopathy-like syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Isotretinoin embryopathy-like syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Kapur Toriello syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Kapur Toriello syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
MEHMO syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Lethal hemolytic anemia and genital anomaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Isotretinoin embryopathy-like syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Hypertelorism with microtia and facial clefting syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	10
Macrocephaly, short stature, paraplegia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Karsch Neugebauer syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
dysplasie olfactogénitale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Isolated anterior cervical hypertrichosis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Klippel Trenaunay syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Johnson neuroectodermal syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Kallman syndrome with heart disease (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Oculopalatocerebral syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Oculocerebrofacial syndrome Kaufman type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Oculocerebrofacial syndrome Kaufman type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Oculoosteocutaneous syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Odonto-tricho-ungual-digito-palmar syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Book syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Bamforth Lazarus syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Bamforth Lazarus syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Catel Manzke syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Acrofrontofacionasal dysostosis type 2	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	8
Oculotrichodysplasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital myogenic ptosis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Oculogastrointestinal muscular dystrophy (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Odonto-tricho-ungual-digito-palmar syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Matthew Wood syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Matthew Wood syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
DK phocomelia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Autosomal recessive popliteal pterygium syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Intellectual disability, developmental delay, contracture syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Ectodermal dysplasia with blindness syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Ectodermal dysplasia with blindness syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
syndrome de Furhmann	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Galloway Mowat syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Oro-facial digital syndrome type 10 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Oro-facial digital syndrome type 10 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
syndrome oro-facio-digital type 5	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
syndrome oro-facio-digital type 5	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Oro-facial digital syndrome type 8 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Oro-facial digital syndrome type 8 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Severe X-linked intellectual disability Gustavson type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Ackerman syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Auriculoocular anomaly and cleft lip syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Autism and facial port-wine stain syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
syndrome d'utérus double-hémivagin-agénésie rénale	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