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
anomalie du développement	Is a	anomalie congénitale	false	Inferred relationship	Some
anomalie du développement	Is a	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Punctate palmoplantar keratoderma (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Weber-Cockayne syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Curry-Hall syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Dermodental dysplasia	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Ulerythema	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Odontomicronychial ectodermal dysplasia (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Atrophoderma vermiculatum	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Familial dyskeratotic comedones	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Autosomal dominant mutilating keratoderma	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Nail dystrophy due to Darier's disease (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Triphalangeal thumbs with onychodystrophy	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Ectodermal dysplasia with hair-tooth-nail-sweating defect	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Congenital palmoplantar and perioral keratoderma of Olmsted	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Tricho-dento-osseous syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Keratosis pilaris	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Odonto-onycho-dermal dysplasia (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Circumscribed palmoplantar keratoderma	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Hidrotic ectodermal dysplasia syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Localised junctional epidermolysis bullosa	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Acromelanosis	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Generalized epidermolysis bullosa simplex	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Hypohidrosis with neurolabyrinthitis	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Salamon's syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Flexural Darier's disease (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Epidermolysis bullosa simplex	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Dermatopathia pigmentosa reticularis	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Epidermolysis bullosa	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Interrupted left inferior vena cava (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Cicatricial junctional epidermolysis bullosa	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Congenital keratoderma	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Progressive palmoplantar keratoderma of Greither	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Epidermolysis bullosa simplex herpetiformis	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Erythrokeratoderma progressiva of Gottron	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Adult junctional epidermolysis bullosa	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Epidermolytic palmoplantar keratoderma of Vorner	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Hereditary follicular keratoses	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Ectodermal dysplasia with hair-tooth defects	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Autosomal dominant epidermolysis bullosa simplex (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Pachyonychia congenita type II of Jackson-Lawler (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Keratolysis exfoliativa	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Generalized junctional epidermolysis bullosa	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Hypohidrotic X-linked ectodermal dysplasia	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Dominant dystrophic epidermolysis bullosa, albopapular type	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Epidermolysis bullosa simplex with neuromuscular disease	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Linear/nevoid/zosteriform Darier's disease (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Diffuse palmoplantar keratoderma of Thost-Unna (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Inherited disorder of keratinisation	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Hereditary erythrokeratolysis	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Pretibial epidermolysis bullosa	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Pachydermoperiostosis of nail	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Keratolytic winter erythema	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Acrokeratosis verruciformis of Darier disease (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Hereditary diffuse palmoplantar keratoderma (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Darier disease	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Dyschromatosis universalis	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Generalized dystrophic epidermolysis bullosa	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Hypohidrosis-diabetes insipidus syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Ectodermal dysplasia with hair-nail defect	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Keratosis pilaris with ichthyosis and deafness	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Ectodermal dysplasia-ocular malformation syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Sandman-Andra syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Erythrokeratoderma en cocardes (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Localised recessive dystrophic epidermolysis bullosa	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Acral Darier's disease (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Tricho-oculodermovertebral syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Primary seborrhea	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Ulerythema of cheeks	Associated morphology	False	anomalie du développement	Inferred relationship	Some	7
Hereditary palmoplantar keratoderma	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Hereditary acantholytic dermatosis	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Inherited cutaneous hyperpigmentation	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Congenital junctional epidermolysis bullosa	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Multiple benign annular creases of extremities	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Localised dystrophic epidermolysis bullosa	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Dominant dystrophic epidermolysis bullosa	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Schoepf-Schulz-Passage syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Keratoderma with pachyonychia congenita	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Keratosis pilaris decalvans	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Tricho-onychodental dysplasia	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Keratoderma punctata	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Inverse junctional epidermolysis bullosa	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Talipes equinocavovarus	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Discontinuity between mitral valve and pulmonary valve (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Discontinuity between mitral valve and pulmonary valve (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Porokeratosis of Mibelli, plaque type	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Porokeratosis of Mibelli, linear unilateral type	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Porokeratosis of Mibelli, superficial disseminated type	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Congenital malformation of dural sinus	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Peripheral venous malformation	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Congenital intracranial vascular malformation (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Phakomatosis cesioflammea	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Phakomatosis spilorosea	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Phakomatosis caesiomarmorata	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Diffuse lymphatic malformation (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Cutaneous capillary malformation (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1

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Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
183282017	Developmental anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
188572017	Developmental malformation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
188573010	Developmental anomaly, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
188574016	Developmental defect, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
188575015	Congenital anomaly, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190332014	Anomalous formation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190333016	Abnormal development, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190334010	Congenital abnormality, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190335011	Malformation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character 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
190342011	Congenital malformation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190343018	Congenital defect, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190344012	Congenital deformity, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190345013	Dysgenesis, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
750678013	Developmental anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1208681014	Developmental abnormality	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 Switzerland NRC maintained Module