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 anomaly	Is a	Congenital anomaly	false	Inferred relationship	Some
Developmental anomaly	Is a	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Derencephalus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Marshall syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Atretocephalus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Penile hypospadias (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Acephalothorax	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Monster with cranial anomalies	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Prader-Willi syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Acephalogaster	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital hernia of foramen of Morgagni	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	7
Congenital hernia of foramen of Bochdalek	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	7
Ectromelia of upper limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Completely unroofed coronary sinus defect in left atrium (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Completely unroofed coronary sinus defect in left atrium (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital hydrocephalus caused by toxoplasmosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Coronary sinus defect in left atrium	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Coronary sinus defect in left atrium	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Acephalobrachius	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Vestigial gastrointestinal remnant	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Persistent Gartner's duct	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Ulerythema ophryogenes (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Ectodermal dysplasia with tooth-nail-sweating defect (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Dyskeratosis congenita	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Symmetrical dyschromatosis of extremities	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Epidermolysis simplex superficialis	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Dento-oculocutaneous syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Progressive junctional epidermolysis bullosa (neurotrophic)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Berlin syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital clubbing	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Palmar pitting due to Darier disease	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Left atrial appendage - right - juxtaposition	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Epidermolysis bullosa simplex, Ogna type (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Familial benign pemphigus	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Congenital ichthyosiform erythroderma	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Keratosis pilaris atrophicans (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Epidermolysis bullosa simplex of the hands AND/OR feet	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Keratosis rubra pilaris (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Endocardial fibroelastosis of left atrium (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Papuloverrucous palmoplantar keratoderma of Jakac-Wolf	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Basan syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Recessive dystrophic epidermolysis bullosa	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Odontotrichomelic syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Junctional epidermolysis bullosa (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Epidermolysis bullosa simplex with hypodontia (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Ichthyosiform erythroderma	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Dominant dystrophic epidermolysis bullosa with absence of skin	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Keratoderma plantare sulcata	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Ectodermal dysplasia with nail defect	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Kirman syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Ectodermal dysplasia with sweating defect	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Roselli-Gulienetti ectodermal dysplasia	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Pachyonychia congenita syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Naegeli-Franceschetti-Jadassohn syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Ectodermal dysplasia with tooth-nail defects	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Lethal autosomal recessive epidermolysis bullosa simplex	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Papillon-Lefèvre syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Flynn-Aird syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Ectodermal dysplasia with tooth-sweating defect	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Dystrophic epidermolysis bullosa inverse type (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Laryngo-onychocutaneous syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Cranioectodermal dysplasia	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Inherited epidermolysis bullosa	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Epidermolysis bullosa pruriginosa (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Hereditary clubbing	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Congenital ectodermal dysplasia of face	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Genodermatosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Keratoderma areata	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Generalised recessive dystrophic epidermolysis bullosa mitis	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Erythrokeratodermia variabilis	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Greither type of ectodermal dysplasia	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Howel-Evans' syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Interrupted right inferior vena cava (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Junctional epidermolysis bullosa mitis (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Reticulate pigmented anomaly of flexures	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Ectodermal dysplasia with hair-tooth-nail defects	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Fried's tooth and nail syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Pachyonychia congenita type III of Schafer-Brunauer (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Dystrophic epidermolysis bullosa	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Hypertrophic Darier's disease (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Ectodermal dysplasia, syndactyly and pili torti	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Curly hair, ankyloblepharon, nail dysplasia syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Erythrokeratoderma	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Keratoderma with deafness	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Junctional epidermolysis bullosa gravis of Herlitz (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Familial focal facial dermal dysplasia	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Acrokeratosis verruciformis of Hopf (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Trichodental syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Dwarfism, alopecia, pseudoanodontia, cutis laxa	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Ectodermal dysplasia	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Acroerythrokeratoderma	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Keratoderma with mental retardation and spastic paraplegia	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Moynahan's syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Odonto-onychial dysplasia with alopecia	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Mutilating keratoderma	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Palmoplantar keratoderma transgrediens	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Punctate palmoplantar keratoderma (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2

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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