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
Ectodermal dysplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Acroerythrokeratoderma	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Keratoderma with mental retardation and spastic paraplegia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Moynahan's syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Odonto-onychial dysplasia with alopecia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Mutilating keratoderma	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Palmoplantar keratoderma transgrediens	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Punctate palmoplantar keratoderma (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Weber-Cockayne syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Curry-Hall syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Dermodental dysplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ulerythema (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Odontomicronychial ectodermal dysplasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
atrophodermie vermiculée (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Familial dyskeratotic comedones	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Autosomal dominant mutilating keratoderma	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Nail dystrophy due to Darier's disease (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Triphalangeal thumbs with onychodystrophy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Ectodermal dysplasia with hair-tooth-nail-sweating defect	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital palmoplantar and perioral keratoderma of Olmsted	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
syndrome tricho-dento-osseux (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
kératose pilaire (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Odonto-onycho-dermal dysplasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Circumscribed palmoplantar keratoderma	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Hidrotic ectodermal dysplasia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Localised junctional epidermolysis bullosa	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Acromelanosis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Generalized epidermolysis bullosa simplex	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Hypohidrosis with neurolabyrinthitis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Salamon's syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Flexural Darier's disease (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
syndrome de coussinets des phalanges-leuconychie-surdité neurosensorielle-hyperkératose palmoplantaire (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Epidermolysis bullosa simplex	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Dermatopathia pigmentosa reticularis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Epidermolysis bullosa	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Interrupted left inferior vena cava (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Cicatricial junctional epidermolysis bullosa	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital keratoderma	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Progressive palmoplantar keratoderma of Greither	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Epidermolysis bullosa simplex herpetiformis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Erythrokeratoderma progressiva of Gottron	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Adult junctional epidermolysis bullosa	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Epidermolytic palmoplantar keratoderma of Vorner	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Hereditary follicular keratoses	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Ectodermal dysplasia with hair-tooth defects	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Autosomal dominant epidermolysis bullosa simplex (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Pachyonychia congenita type II of Jackson-Lawler (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Keratolysis exfoliativa	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Generalized junctional epidermolysis bullosa	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Hypohidrotic X-linked ectodermal dysplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Epidermolysis bullosa simplex with neuromuscular disease	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Linear/nevoid/zosteriform Darier's disease (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Diffuse palmoplantar keratoderma of Thost-Unna (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Inherited disorder of keratinization	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Hereditary erythrokeratolysis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Pretibial epidermolysis bullosa	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Pachydermoperiostosis of nail	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
erythème kératolytique hivernal	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Acrokeratosis verruciformis of Darier disease (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Hereditary diffuse palmoplantar keratoderma (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
kératose folliculaire de Darier	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Dyschromatosis universalis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Generalized dystrophic epidermolysis bullosa	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Hypohidrosis-diabetes insipidus syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Ectodermal dysplasia with hair-nail defect	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Keratosis pilaris with ichthyosis and deafness	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Ectodermal dysplasia-ocular malformation syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Sandman-Andra syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Erythrokeratoderma en cocardes (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Localised recessive dystrophic epidermolysis bullosa	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Acral Darier's disease (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Tricho-oculodermovertebral syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Primary seborrhea (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ulerythema of cheeks (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Hereditary palmoplantar keratoderma	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Hereditary acantholytic dermatosis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Inherited cutaneous hyperpigmentation	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital junctional epidermolysis bullosa	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Multiple benign annular creases of extremities	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Localised dystrophic epidermolysis bullosa	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Dominant dystrophic epidermolysis bullosa	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Schoepf-Schulz-Passage syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Keratoderma with pachyonychia congenita	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Keratosis pilaris decalvans	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Tricho-onychodental dysplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Keratoderma punctata	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Inverse junctional epidermolysis bullosa	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Talipes equinocavovarus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Discontinuity between mitral valve and pulmonary valve (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Discontinuity between mitral valve and pulmonary valve (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
utérus bicorne (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Porokeratosis of Mibelli, plaque type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Porokeratosis of Mibelli, linear unilateral type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Porokeratosis of Mibelli, superficial disseminated type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4

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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