25283002: Congenital dysplasia (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

42393010 Congenital dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

755582019 Congenital dysplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital dysplasia	est un(e) (attribut)	Congenital anomaly	false	Inferred relationship	Some
Congenital dysplasia	est un(e) (attribut)	dysplasie	false	Inferred relationship	Some
Congenital dysplasia	est un(e) (attribut)	Congenital malformation	false	Inferred relationship	Some
Congenital dysplasia	est un(e) (attribut)	Developmental abnormality	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial caudal dysgenesis (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	3
Optic disc dysplasia (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	1
Frontonasal dysplasia sequence	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	3
syndrome de Furhmann	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
Oro-facial digital syndrome type 10 (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	7
syndrome oro-facio-digital type 5	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	7
Oro-facial digital syndrome type 8 (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	7
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	6
Parastremmatic dwarfism (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	6
Odonto-tricho-ungual-digito-palmar syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	3
Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	9
Ackerman syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	3
Endocrine-cerebro-osteodysplasia syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	6
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	5
Hypotrichosis with juvenile macular degeneration syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	4
Ectodermal dysplasia with blindness syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	6
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	6
Kozlowski spondylometaphyseal dysplasia	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
Pili torti onychodysplasia syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	4
Pili torti onychodysplasia syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	7
Pili torti onychodysplasia syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	5
syndrome de la maladie cardiaque polyvalvulaire	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	4
syndrome de dysplasie osseuse terminale-défauts de pigmentation	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	5
syndrome de la maladie cardiaque polyvalvulaire	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	3
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	7
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	5
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
Thymic, renal, anal, lung dysplasia syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	3
Thoracolaryngopelvic dysplasia	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	3
Clastothrix	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	1
Stern Lubinsky Durrie syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	4
Clastothrix	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
Trichothiodystrophy (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	4
Grant syndrome	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	4
Patterson Stevenson Fontaine syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
Patterson Stevenson Fontaine syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	3
Schimke immuno-osseous dysplasia (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	4
Microspherophakia with metaphyseal dysplasia syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	3
8q13 microdeletion syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	3
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	6
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
Hypertelorism Teebi type (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	3
Microspherophakia with metaphyseal dysplasia syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	4
Craniometadiaphyseal dysplasia wormian bone type (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	3
Bowed tibia, radial anomaly, osteopenia, fracture syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
Cheirospondyloenchondromatosis (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
Craniolenticulosutural dysplasia (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	4
8q13 microdeletion syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	5
Atelosteogenesis type 1 (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
Atelosteogenesis type 3 (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
Omodysplasia (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	1
Autosomal dominant omodysplasia (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	1
Autosomal recessive omodysplasia (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	1
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	7
Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	3
Genochondromatosis type 2 (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
McCune Albright syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	6
Short rib polydactyly syndrome type I (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	6
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	10
Bone dysplasia lethal Holmgren type (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
Coxoauricular syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	3
Melhem Fahl syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	1
syndrome de dysplasie ectodermique-surdité neurosensorielle	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	6
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	1
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	6
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	7
Ehlers-Danlos and osteogenesis imperfecta syndrome	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	3
Ehlers-Danlos and osteogenesis imperfecta syndrome	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	4
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	4
Exostosis, anetoderma, brachydactyly type E syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	5
Skeletal dysplasia brachydactyly syndrome	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	3
Long thumb brachydactyly syndrome	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	5
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	5
Skeletal dysplasia brachydactyly syndrome	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	6
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	4
dysplasie ectodermique tricho-odonto-onychiale	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	3
dysplasie ectodermique tricho-odonto-onychiale	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	5
Dysplasia of eye	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	1
Unilateral congenital dysplasia of lung with vascular anomalies (situation)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	1
dysplasie oculo-dento-osseuse	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	3
Metaphyseal fibrous defect	est un(e) (attribut)	False	Congenital dysplasia	Inferred relationship	Some
dysplasie congénitale d'une hanche	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	1
Regional odontodysplasia	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	1
Shell teeth	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	1
Baller-Gerold syndrome	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	1
Congenital renal dysplasia	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	1
Agenesis of right kidney co-occurrent with congenital dysplasia of left kidney (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
Agenesis of left kidney co-occurrent with congenital dysplasia of right kidney (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
Bipartite talus (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	1
Conductive deafness, ptosis, skeletal anomalies syndrome	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2
Oculomaxillofacial dysostosis (disorder)	morphologie associée (attribut)	False	Congenital dysplasia	Inferred relationship	Some	2

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Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
42393010	Congenital dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
755582019	Congenital dysplasia (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core