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
Aganglionosis of Auerbach's plexus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Atrial septal defect through coronary sinus orifice	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Accessory tissue on truncal valve cusp	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Right posterior open bite	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Left posterior open bite	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Agnathus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Synotus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Derencephalus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
syndrome de Marshall (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Atretocephalus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
hypospadias du pénis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Acephalothorax	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Monster with cranial anomalies (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Prader-Willi syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Acephalogaster	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital hernia of foramen of Morgagni (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Congenital hernia of foramen of Bochdalek	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
ectromélie d'un membre supérieur	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Completely unroofed coronary sinus defect in left atrium (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Completely unroofed coronary sinus defect in left atrium (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
hydrocéphalie causée par une toxoplasmose congénitale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Coronary sinus defect in left atrium	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Coronary sinus defect in left atrium	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Acephalobrachius	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Vestigial gastrointestinal remnant	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Persistent Gartner's duct	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Ulerythema ophryogenes (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Ectodermal dysplasia with tooth-nail-sweating defect (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Dyskeratosis congenita	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Symmetrical dyschromatosis of extremities	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Epidermolysis simplex superficialis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Dento-oculocutaneous syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Epidermolysis bullosa simplex with mottled pigmentation	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Progressive junctional epidermolysis bullosa (neurotrophic)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Berlin syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital clubbing	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Palmar pitting due to Darier disease	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Left atrial appendage - right - juxtaposition	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Epidermolysis bullosa simplex, Ogna type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
pemphigus bénin familial	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital ichthyosiform erythroderma	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Keratosis pilaris atrophicans (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Epidermolysis bullosa simplex of the hands and feet	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Keratosis rubra pilaris (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Endocardial fibroelastosis of left atrium (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Papuloverrucous palmoplantar keratoderma of Jakac-Wolf	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Basan syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Recessive dystrophic epidermolysis bullosa (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Odontotrichomelic syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Junctional epidermolysis bullosa (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Epidermolysis bullosa simplex with hypodontia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Ichthyosiform erythroderma	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Dominant dystrophic epidermolysis bullosa with absence of skin	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Keratoderma plantare sulcata	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ectodermal dysplasia with nail defect	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Kirman syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ectodermal dysplasia with sweating defect	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Roselli-Gulienetti ectodermal dysplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Pachyonychia congenita syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Naegeli-Franceschetti-Jadassohn syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Ectodermal dysplasia with tooth-nail defects	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Lethal autosomal recessive epidermolysis bullosa simplex	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
syndrome de Papillon-Lefèvre (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Flynn-Aird syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ectodermal dysplasia with tooth-sweating defect	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Dystrophic epidermolysis bullosa inverse type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Laryngo-onychocutaneous syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Cranioectodermal dysplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Inherited epidermolysis bullosa (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Epidermolysis bullosa pruriginosa (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Hereditary clubbing	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital ectodermal dysplasia of face	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Genodermatosis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Keratoderma areata	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Generalised recessive dystrophic epidermolysis bullosa mitis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Erythrokeratodermia variabilis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Greither type of ectodermal dysplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Howel-Evans' syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Interrupted right inferior vena cava (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Junctional epidermolysis bullosa mitis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Reticulate pigmented anomaly of flexures	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ectodermal dysplasia with hair-tooth-nail defects	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Fried's tooth and nail syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Progressive recessive dystrophic epidermolysis bullosa	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Pachyonychia congenita type III of Schafer-Brunauer (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Dystrophic epidermolysis bullosa	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Hypertrophic Darier's disease (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Ectodermal dysplasia, syndactyly and pili torti	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Curly hair, ankyloblepharon, nail dysplasia syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Erythrokeratoderma	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Keratoderma with deafness (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Junctional epidermolysis bullosa gravis of Herlitz (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Familial focal facial dermal dysplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Acrokeratosis verruciformis of Hopf (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Trichodental syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Dwarfism, alopecia, pseudoanodontia, cutis laxa	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ectodermal dysplasia	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