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
Cerebro-facio-thoracic dysplasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	8
Craniofacial ulnar renal syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	11
Craniosynostosis with facial dysmorphism and brachydactyly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Craniosynostosis and intracranial calcification syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Craniosynostosis Boston type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Cystic leukoencephalopathy without megalencephaly (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Chondrodysplasia with disorder of sex development syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
syndrome d'hypertrichose cervicale-neuropathie périphérique	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Cerebrooculonasal syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Cerebrooculonasal syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Ehlers-Danlos syndrome cardiac valvular type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Frank-Ter Haar syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Brain calcification Rajab type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Craniosynostosis Boston type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Ehlers-Danlos syndrome musculocontractural type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Amaurosis hypertrichosis syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital bilateral internal tibial torsion	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Craniofacial conodysplasia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Choroidal atrophy and alopecia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Ehlers-Danlos syndrome with periventricular heterotopia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Fibular dimelia diplopodia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Filippi syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Craniofacial dyssynostosis syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Congenital agenesis of brainstem nuclei	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Ragged placenta	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Brachydactyly of hand	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Synbrachydactyly of hand	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Brachyphalangia of toe	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital penoscrotal transposition	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital penoscrotal transposition	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Chudley Lowry Hoar syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Fine Lubinsky syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Hair defect with photosensitivity and intellectual disability syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Hall Riggs syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Heart defect and limb shortening syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Heart-hand syndrome type 3 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Short stature with webbed neck and congenital heart disease syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Short stature with webbed neck and congenital heart disease syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Lymphedema hypoparathyroidism syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Deafness, enamel hypoplasia, nail defect syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	8
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	10
Deafness and intellectual disability Martin Probst type syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Dermo-odonto dysplasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Developmental malformation, deafness, dystonia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Hydrolethalus syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Cloverleaf skull with multiple congenital anomalies syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	11
surdité-cécité-hypopigmentation	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Deafness, enamel hypoplasia, nail defect syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Congenital malformation of tongue, mouth and pharynx	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Heart-hand syndrome type 2 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	8
dermato-ostéolyse type Kirghize	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	9
Oromandibular-limb hypogenesis spectrum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Glossopalatine ankylosis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Glossopalatine ankylosis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
syndrome léthal d'hydrocéphalie, malformation cardiaque, hyperdensité osseuse	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
syndrome léthal d'hydrocéphalie, malformation cardiaque, hyperdensité osseuse	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
syndrome de malformations cérébrales-cardiopathie congénitale-polydactylie postaxiale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
syndrome de malformations cérébrales-cardiopathie congénitale-polydactylie postaxiale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Branchiogenic deafness syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Intellectual disability, epilepsy, bulbous nose syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
dysplasie ectodermique hidrotique type Halal	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
dysplasie ectodermique hidrotique type Halal	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
dysplasie ectodermique hidrotique type Halal	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Holmes Gang syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Infection causing congenital anomaly (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
syndrome d'hypertrichose-faciès acromégaloïde	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
syndrome d'hypertrichose-faciès acromégaloïde	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Juberg Hayward syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Juberg Hayward syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Juberg Hayward syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Juberg Marsidi syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Microphthalmia with brain and digit anomaly (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Puerto Rican infant hypotonia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Puerto Rican infant hypotonia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Puerto Rican infant hypotonia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6

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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