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
Parkes Weber syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Angio-osteohypertrophic syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Angio-osteohypertrophic syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
46,XY partial gonadal dysgenesis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Celosomus (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ethmocephalus (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Neuroectodermal endocrine syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Neuroectodermal endocrine syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Embryofetopathy caused by methimazole (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Ligase 4 syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Keratin 14 related epidermolysis bullosa simplex (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Kleefstra syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital ichthyosis with hypotrichosis syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Autosomal dominant osteopetrosis type 2 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Neuroectodermal melanolysosomal disease (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Palmoplantar keratoderma with clinodactyly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Junctional epidermolysis bullosa non-Herlitz type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Hypertelorism Teebi type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Mesio-occlusion of teeth	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Supernumerary roots	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Pericardial and diaphragmatic defect syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Hypospadias, hypertelorism, coloboma, deafness syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Congenital trigger thumb of right hand (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital trigger thumb of left hand (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Polysyndactyly and cardiac malformation syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Cryptomicrotia brachydactyly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Crisponi syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Craniomicromelic syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Neutropenia, monocytopenia, deafness syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Persistent fetal uterus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Juvenile osteochondrosis of tibial tuberosity of bilateral knees (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Crowding of teeth	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital anomaly of humerus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital anomaly of radius	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital anomaly of ulna (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital anomaly of femur	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital anomaly of fibula	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital anomaly of tibia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital anomaly of calcaneus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital anomaly of tarsal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital anomaly of metatarsal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Crisponi syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Craniomicromelic syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Temple Baraitser syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Atrial septal defect, atrioventricular conduction defect syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Auricular abnormality, cleft lip, ocular abnormality syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Congenital anomaly of carpal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital anomaly of metacarpal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Auricular abnormality, cleft lip, ocular abnormality syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital anomaly of external female genitalia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Keutel syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Craniolenticulosutural dysplasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
syndrome d'hémangiome périnéal, malformations génitales externes, lipomyéloméningocèle, anomalies vésicorénales, imperforation anale, acrochordon	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
5-amino-4-imidazole carboxamide ribosiduria (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Mesonephric duct cyst	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Rudimentary uterus in male	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Rudimentary uterus in male	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Embryopathy caused by retinoid (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Cerebral gigantism jaw cysts syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Centripetalis recessive dystrophic epidermolysis bullosa (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Autosomal recessive faciodigitogenital syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Autosomal recessive faciodigitogenital syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Autosomal recessive faciodigitogenital syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Congenital muscular dystrophy Paradas type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
antéversion congénitale du fémur (constatation)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Bathing suit ichthyosis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital enterocyte heparan sulfate deficiency (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Longitudinal deficiency of metatarsal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Infundibulopelvic stenosis multicystic kidney syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Intellectual disability Buenos Aires type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Neurofaciodigitorenal syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Neurofaciodigitorenal syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Neurofaciodigitorenal syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
syndrome d'ataxie cérébelleuse, déficience intellectuelle, atrophie optique, anomalies cutanées	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Patent ductus arteriosus with left-to-right shunt	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Patent ductus arteriosus with right-to-left shunt	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital anomaly of descending thoracic aorta (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital anomaly of abdominal aorta (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Compression of trachea and esophagus co-occurrent and due to congenital anomaly of aortic arch (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital venous malformation of skin (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Cystic hygroma in fetus (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Keratinopathic ichthyosis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Hereditary skin peeling syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Distal myopathy Welander type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Short rib polydactyly syndrome type I (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Talocalcaneal coalition	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Suprabasal epidermolysis bullosa simplex (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
syndrome d'alopécie circonscrite-polydactylie	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